FlyBase Allele Report: Dmel\Blm[N1]

General Information

Symbol

Dmel\Blm^N1

Species

D. melanogaster

Name

FlyBase ID

FBal0218249

Feature type

allele

Associated gene

Dmel\Blm

Associated Insertion(s)

Carried in Construct

Also Known As

mus309^N1

Key Links

Allele class

Mutagen

P-element activity

Nature of the Allele

Allele class

Mutagen

P-element activity

(McVey et al., 2007)

Progenitor genotype

P{EPgy2}Blm^EY03745

(McVey et al., 2007)

Cytology

Description

Imprecise excision of the P{EPgy2}mus309^EY03745 insertion, resulting in a 2480bp deletion that removes mus309 sequences, including the start codon and part of the helicase domain.

(McVey et al., 2007)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 1 )

Disease

Evidence

References

model of Bloom syndrome

CEA

(McVey et al., 2007)

CEA with Blm^D2

(Lafave et al., 2014)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal DNA repair (with Blm^D2)

(Kuo et al., 2014)

abnormal mitotic cell cycle (with Blm^D2)

(Kuo et al., 2014)

chemical sensitive (with Blm^D2)

(Kuo et al., 2014)

increased cell death

(Trowbridge et al., 2007)

lethal - all die during embryonic stage | maternal effect

(McVey et al., 2007)

lethal - all die during embryonic stage | maternal effect (with Blm^D2)

(McVey et al., 2007)

lethal - all die during embryonic stage | maternal effect (with Blm^D3)

(McVey et al., 2007)

radiation sensitive (with Blm^D2)

(Kuo et al., 2014)

radiation sensitive | recessive

(McVey et al., 2007)

short lived

(Garcia et al., 2011)

short lived | chemical conditional

(Bolterstein et al., 2014)

some die during embryonic stage | maternal effect

(McVey et al., 2007)

some die during embryonic stage | maternal effect (with Blm^D2)

(McVey et al., 2007)

some die during embryonic stage | maternal effect (with Blm^D3)

(McVey et al., 2007)

Phenotype Manifest In

adult gut

(Garcia et al., 2011)

ovary | adult stage

(Garcia et al., 2011)

testis | adult stage

(Garcia et al., 2011)

wing disc

(Trowbridge et al., 2007)

Detailed Description

Statement

Reference

Larval exposure to hydroxyurea decreases (dose-dependently) Blm^N1/Blm^N1 adult survival rates.

(Bolterstein et al., 2014)

Blm^N1/Blm^D2 animals are hyper-sensitive to the cross-linking agent HN2, the mono-adduct generator MMS, and ionizing radiation.

Spontaneous mitotic crossovers are elevated in Blm^N1/Blm^D2 males.

Blm^N1/Blm^D2 animals show a severely decreased ability to complete 'synthesis-dependent strand annealing' repair of a DNA gap.

(Kuo et al., 2014)

Blm^N1/Blm^N1 flies are short lived and exhibit a significant increase in the frequency of tumor formation in the gut at 35 days-old, with tumors partially or fully occluding the intestinal lumen, and germline tumors consisting of masses of proliferating cells that are morphologically similar to stem cells, as compared to wild type. No significant increase of tumor frequency is observed in 60 day old adults, as compared to wild type.

(Garcia et al., 2011)

Embryos derived from homozygous mus309^N1/mus309^D3 and mus309^N1/mus309^D2 females have an extremely low hatch rate.

Only 40% of the embryos derived from mus309^N1/mus309^D2 females have cellularised by 4-6 hours after egg laying, and none have gastrulated by this time (in contrast to embryos derived from wild-type females where 99% have cellularised and 96% have gastrulated by this time).

Homozygous larvae are hypersensitive to gamma radiation, showing reduced survival to adulthood after irradiation with doses of radiation that do not have a large effect on the survival of wild-type larvae.

Studies of excision and repair events of P{hsw^a} in mus309^N1/mus309^D2 males indicate that synthesis-dependent strand annealing (SDSA) is severely compromised in these animals.

mus309^N1/mus309^D2 males show elevated rates of mitotic crossing over compared to control males.

(McVey et al., 2007)

Apoptosis in the wing disc is increased 3- to 4-fold in mus309^N1 mutants compared to wild type.

(Trowbridge et al., 2007)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Blm^N1/Blm^D2 has abnormal DNA repair phenotype, enhanceable by Fancm⁰⁶⁹³/Df(3R)ED6058

(Kuo et al., 2014)

Blm^N1/Blm^D2 has chemical sensitive phenotype, enhanceable by Fancm⁰⁶⁹³/Df(3R)ED6058

(Kuo et al., 2014)

Blm^N1/Blm^D2 has radiation sensitive phenotype, enhanceable by Fancm⁰⁶⁹³/Df(3R)ED6058

(Kuo et al., 2014)

Blm^N1 has short lived phenotype, enhanceable by DNAlig4¹⁶⁹/DNAlig4¹⁶⁹

(Garcia et al., 2011)

Blm^N1 has increased cell death phenotype, enhanceable by mus81^Nhe

(Trowbridge et al., 2007)

NOT Enhanced by

Statement

Reference

Blm^N1 has neoplasia phenotype, non-enhanceable by DNAlig4¹⁶⁹/DNAlig4¹⁶⁹

(Garcia et al., 2011)

Suppressed by

Statement

Reference

Blm^N1/Blm^D2, Gen^unspecified/Df(3L)Exel6103 has lethal | first instar larval stage phenotype, suppressible by spn-A^unspecified

(Andersen et al., 2011)

Blm^N1/Blm^D2, mus81^Nhe has lethal phenotype, suppressible by spn-A^093A/spn-A^093A

(Trowbridge et al., 2007)

NOT suppressed by

Statement

Reference

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973 has lethal | pupal stage phenotype, non-suppressible by spn-A^unspecified

(Andersen et al., 2011)

Enhancer of

Statement

Reference

Blm^N1/Blm^D2 is an enhancer of abnormal DNA repair phenotype of Fancm⁰⁶⁹³/Df(3R)ED6058

(Kuo et al., 2014)

Blm^N1/Blm^D2 is an enhancer of chemical sensitive phenotype of Fancm⁰⁶⁹³/Df(3R)ED6058

(Kuo et al., 2014)

Blm^N1/Blm^D2 is an enhancer of radiation sensitive phenotype of Fancm⁰⁶⁹³/Df(3R)ED6058

(Kuo et al., 2014)

NOT Enhancer of

Statement

Reference

Blm^N1/Blm^N1 is a non-enhancer of short lived | chemical conditional phenotype of WRNexo^Δ

(Bolterstein et al., 2014)

Other

Statement

Reference

Blm^N1/Blm^D2, Fancm⁰⁶⁹³/Df(3R)ED6058 has viable phenotype

(Kuo et al., 2014)

Blm^N1/Blm^D2, Gen^Z5997, spn-A^093A/spn-A³ has lethal - all die during pupal stage phenotype

(Kuo et al., 2014)

Blm^N1/Blm^D2, mus81^Nhe, spn-A^093A/spn-A³ has partially lethal - majority live phenotype

(Kuo et al., 2014)

Blm^N1/Blm^D2, mei-9^a has viable phenotype

(Kuo et al., 2014)

Blm^N1/Blm^D2, mus81^Nhe has lethal - all die during pharate adult stage phenotype

(Kuo et al., 2014)

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973 has lethal - all die during pupal stage phenotype

(Kuo et al., 2014)

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973, spn-A^093A/spn-A³ has lethal - all die during pupal stage phenotype

(Kuo et al., 2014)

Blm^N1/Blm^D2, slx1^F93I has lethal - all die during pupal stage phenotype

(Kuo et al., 2014)

Blm^N1/Blm^D2, Gen^Z5997 has lethal - all die during first instar larval stage phenotype

(Kuo et al., 2014)

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973 has lethal | pupal stage phenotype

(Andersen et al., 2011, Andersen et al., 2009)

Blm^N1/Blm^D2, Gen^unspecified/Df(3L)Exel6103, spn-A^unspecified has lethal | pupal stage phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, mus81^Nhe has lethal | pharate adult stage phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, slx1^F93I has lethal | pupal stage phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, Df(3R)HKK1, Dp(3;3)HKK2 has lethal | pupal stage phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, Gen^unspecified/Df(3L)Exel6103 has lethal | first instar larval stage phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973 has melanotic mass phenotype | third instar larval stage phenotype

(Andersen et al., 2009)

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973, spn-A^093A/spn-A³ has lethal | pupal stage phenotype

(Andersen et al., 2009)

Blm^N1/Blm^D2, mei-9^unspecified has viable phenotype

(Andersen et al., 2009)

Blm^D3/Blm^N1, mus81^Nhe has lethal phenotype

(Trowbridge et al., 2007)

Blm^N2/Blm^N1, mus81^Nhe has viable phenotype

(Trowbridge et al., 2007)

Blm^N1/Blm^D2, mus81^Nhe has lethal phenotype

(Trowbridge et al., 2007)

Blm^N1/Blm^D2, mms4^ex1 has lethal phenotype

(Trowbridge et al., 2007)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Blm^N1 has testis | adult stage phenotype, non-enhanceable by DNAlig4¹⁶⁹/DNAlig4¹⁶⁹

(Garcia et al., 2011)

Blm^N1 has ovary | adult stage phenotype, non-enhanceable by DNAlig4¹⁶⁹/DNAlig4¹⁶⁹

(Garcia et al., 2011)

Blm^N1 has adult gut phenotype, non-enhanceable by DNAlig4¹⁶⁹/DNAlig4¹⁶⁹

(Garcia et al., 2011)

Suppressed by

Statement

Reference

Blm^N1/Blm^D2, mus81^Nhe has condensed chromosome phenotype, suppressible by spn-A^unspecified

(Andersen et al., 2011)

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973 has condensed chromosome phenotype, suppressible by spn-A^unspecified

(Andersen et al., 2011)

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973 has salivary gland imaginal ring phenotype, suppressible by spn-A^unspecified

(Andersen et al., 2011)

NOT suppressed by

Statement

Reference

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973 has larval brain phenotype, non-suppressible by spn-A^unspecified

(Andersen et al., 2011)

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973 has imaginal disc | larval stage phenotype, non-suppressible by spn-A^unspecified

(Andersen et al., 2011)

Other

Statement

Reference

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973 has larval brain phenotype

(Andersen et al., 2011, Andersen et al., 2009)

Blm^N1/Blm^D2, Gen^unspecified/Df(3L)Exel6103, spn-A^unspecified has larval brain phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, Gen^unspecified/Df(3L)Exel6103, spn-A^unspecified has salivary gland imaginal ring phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, Gen^unspecified/Df(3L)Exel6103, spn-A^unspecified has imaginal disc | larval stage phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, Gen^unspecified/Df(3L)Exel6103, spn-A^unspecified has condensed chromosome phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, mus81^Nhe has condensed chromosome phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973 has salivary gland imaginal ring phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973 has imaginal disc | larval stage phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973 has condensed chromosome phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, slx1^F93I has imaginal disc | larval stage phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, slx1^F93I has larval neuroblast | larval stage phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, Df(3R)HKK1, Dp(3;3)HKK2 has imaginal disc | larval stage phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, Df(3R)HKK1, Dp(3;3)HKK2 has larval neuroblast | larval stage phenotype

(Andersen et al., 2011)

Blm^N1/Blm^D2, mus312^D1/mus312^Z1973 has imaginal disc | third instar larval stage phenotype

(Andersen et al., 2009)

Additional Comments

Genetic Interactions

Statement

Reference

Blm^N1/Blm^N1 WRNexo^Δ/WRNexo^Δ double mutants have similar hydroxyurea sensitivity to either single mutant.

(Bolterstein et al., 2014)

The rate of spontaneous mitotic crossovers in Blm^N1/Blm^D2 Fancm⁰⁶⁹³/Df(3R)ED6058 males is not significantly different from that in Fancm⁰⁶⁹³/Df(3R)ED6058 males, but is significantly lower than in Blm^N1/Blm^D2 males.

(Kuo et al., 2014)

mus309^N1/mus309^D2 slx1^F93I and mus309^N1/mus309^D2 Df(3R)HKK1, Dp(3;3)HKK2 double mutant animals die as early pupae, larvae lack imaginal discs and larval neuroblasts are frequently polyploid.

mus309^N1/mus309^D2 mus312^D1/mus312^Z1973 double mutant larvae have small brains, lack imaginal discs and have a reduced number of salivary gland imaginal ring cells. The nuclei of the remaining salivary gland imaginal ring cells appear larger than normal. Mitotic neuroblasts in these larvae show extreme genome instability; no mitotic nuclei with completely intact chromosomes are detected and approximately one-third show polyploidy.

Mitotic neuroblasts in mus81^Nhe ; mus309^N1/mus309^D2 double mutant larvae show an increased frequency of broken chromosomes compared to wild type.

The addition of spn-A^unspecified significantly decreases the number of chromosome breaks seen in mitotic neuroblasts of mus81^Nhe ; mus309^N1/mus309^D2 larvae.

Gen^unspecified/Df(3L)Exel6103 mus309^N1/mus309^D2 spn-A^unspecified triple mutant larvae have small brain and generally lack imaginal discs (although very small rudimentary discs are occasionally visible). Salivary gland imaginal ring cells are reduced in number and have enlarged nuclei. Mitotic neuroblasts have numerous chromosome breaks.

The addition of spn-A^unspecified suppresses the the chromosome breakage and polyploidy phenotypes seen in mitotic neuroblasts of mus309^N1/mus309^D2 mus312^D1/mus312^Z1973 larvae, and also suppresses the defects in the salivary gland imaginal ring cells seen in the mus309^N1/mus309^D2 mus312^D1/mus312^Z1973 double mutants. However, addition of spn-A^unspecified does not suppress the pupal lethality, small brains and lack of imaginal discs seen in the mus309^N1/mus309^D2 mus312^D1/mus312^Z1973 double mutants.

(Andersen et al., 2011)

The presence of Lig4¹⁶⁹/Lig4¹⁶⁹ does not significantly enhance the severity of tumor formation, but does enhance the decreased lifespan seen in Blm^N1/Blm^N1 mutant adults.

(Garcia et al., 2011)

mus312^D1/mus312^Z1973, mus309^D2/mus309^N1 double mutants are inviable, dying after pupariation. Third-instar larvae have melanotic tumors and lack larval imaginal discs. Larval brains of double mutants are greatly reduced in size.

The spn-A³/spn-A^093A transheterozygous condition does not suppress the lethality of mus312^D1/mus312^Z1973, mus309^D2/mus309^N1 double mutants.

(Andersen et al., 2009)

Apoptosis in the wing disc is highly elevated compared to wild type in mus81^Nhe ; mus309^N1 double mutants.

(Trowbridge et al., 2007)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (3)

Bloomington

28878

w¹¹¹⁸; Blm^N1/TM3, Sb¹

94593

y¹ w^67c23; Blm^N1 rec² P{UASp-Blm.K}3/TM6C, Sb¹; TI{GMR-HMS04515}Gat^eya/In(4)ci^D, ci^D pan^ciD

Kyoto

118750

y¹ w^67c23; Blm^N1 rec² P{UASp-Blm.K}3/TM6C, Sb¹; TI{GMR-HMS04515}Gat^eya/In(4)ci^D, ci^D pan^ciD

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Blm^N1

(Bereda et al., 2025, Hartmann et al., 2019, Bolterstein et al., 2014, Kuo et al., 2014, Lafave et al., 2014)

DmBlm^N1

(Cox et al., 2019)

blm^N1

(Thomas et al., 2022)

mus309^N1

(Do et al., 2014, Kohl et al., 2012, Andersen et al., 2011, Garcia et al., 2011, Andersen et al., 2009, McVey et al., 2007, Trowbridge et al., 2007)

Name Synonyms

Secondary FlyBase IDs

References (14)

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