FlyBase Allele Report: Dmel\Blm[D3]

General Information

Symbol

Dmel\Blm^D3

Species

D. melanogaster

Name

FlyBase ID

FBal0012663

Feature type

allele

Associated gene

Dmel\Blm

Associated Insertion(s)

Carried in Construct

Also Known As

mus309^d3

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Boyd et al., 1981)

Progenitor genotype

Cytology

Description

Nucleotide substitution: G?A. Nucleotide substitution: A?G. Amino acid replacement: E866K. Amino acid replacement: T1443A.

(Kusano et al., 2001)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:11,738,949..11,738,949 [-]

Nucleotide change:

G11738949A

Reported nucleotide change:

G?A

Amino acid change:

E866K | Blm-PA

Reported amino acid change:

E866K

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change. 1 of 2 mutations in this strain.

(Kusano et al., 2001)

point_mutation

3R:11,737,163..11,737,163 [-]

Nucleotide change:

A11737163G

Reported nucleotide change:

A?G

Amino acid change:

T1443A | Blm-PA

Reported amino acid change:

T1443A

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change. 1 of 2 mutations in this strain.

(Kusano et al., 2001)

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 with Blm^D2

(McVey et al., 2004)

CEA

(McVey et al., 2007)

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

(Beall and Rio, 1996)

chemical sensitive (with Blm^D2)

(Beall and Rio, 1996)

chemical sensitive (with Df(3R)T-7)

(Kusano et al., 2001)

chemical sensitive | recessive

(Kooistra et al., 1999)

female sterile (with Blm^D2)

(Beall and Rio, 1996)

female sterile | recessive

(Szabad, 1998.4.8)

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^N1)

(McVey et al., 2007)

partially lethal (with Blm^D2)

(Portin, 2005)

radiation sensitive (with Blm^D2)

(McVey et al., 2007)

radiation sensitive | recessive

(Kooistra et al., 1999)

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

(McVey et al., 2007)

some die during embryonic stage | maternal effect (with Blm^N1)

(McVey et al., 2007)

Phenotype Manifest In

Detailed Description

Statement

Reference

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

mus309^D2/mus309^D3 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 homozygous, mus309^D2/mus309^D3 and mus309^N2/mus309^D3 males indicate that synthesis-dependent strand annealing (SDSA) is severely compromised in these animals. SDSA is also compromised in mus309^D3/+ males.

mus309^D2/mus309^D3 males show elevated rates of mitotic crossing over compared to control males.

(McVey et al., 2007)

mus309^D2/mus309^D3 mutants have a similar frequency of single-strand annealing repair (SSA) compared to controls in a P{wIw.FRT} hemizygous assay to study DNA double-stranded break repair when assayed at 32^oC or 38^oC.

(Wei and Rong, 2007)

Blm^D2/Blm^D3 flies are semilethal.

(Portin, 2005)

The complete copia element in w^a.hs has an LTR at each end. Following excision of P{hsw^a}, repair by SDSA (synthesis-dependent strand annealing) can lead to excision of this copia element due to annealing at these LTRs, resulting in red eyed progeny. Incomplete SDSA, where joining has occurred independently of annealing of homologous ends, can delete parts of the w ORF in w^a.hs resulting in yellow eyed progeny. The frequency of red eyed progeny following excision of P{hsw^a}sd^wa using H{PΔ2-3}HoP2.1 (and therefore of complete SDSA) is decreased from 6% to 0.2% in a mus309^D2/mus309^D3 background, but the frequency of yellow eyed progeny (and therefore of incomplete SDSA) is increased from 10% to 15.5%. This background also increases the proportion of hemizygous lethal sd deletions resulting from this excision event (from 2.4% to 25%), and the proportion of non-lethal sd deletions from 7% to 35.5%.

(McVey et al., 2004)

mus309^D3/Df(3R)T-7 animals are sensitive to methyl methanesulfonate.

(Kusano et al., 2001)

mus309^D2/mus309^D3 animals show no defects in a DNA damage checkpoint assay.

(Brodsky et al., 2000)

mus309^D2/mus309^D3 mutants are threefold more sensitive to X rays than wild-type flies.

(Kooistra et al., 1999)

Unable to repair double-strand DNA breaks. Hypersensitive to methyl methanesulfonate (MMS).

(Beall and Rio, 1996)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Blm^D3/Blm^D2 has radiation sensitive phenotype, enhanceable by okr^A19-10/okr^17-11

(Kooistra et al., 1999)

Suppressed by

Statement

Reference

Blm^D3/Blm^D2 has female sterile phenotype, suppressible by Irbp^+t8.8

(Beall and Rio, 1996)

Blm^D3/Blm^D2 has chemical sensitive phenotype, suppressible by Irbp^+t8.8

(Beall and Rio, 1996)

Blm^D3/Blm^D2 has female sterile phenotype, suppressible by Irbp^+t13

(Beall and Rio, 1996)

Blm^D3/Blm^D2 has chemical sensitive phenotype, suppressible by Irbp^+t13

(Beall and Rio, 1996)

NOT suppressed by

Statement

Reference

Blm^D3/Blm^D2 has female sterile phenotype, non-suppressible by Irbp^6.8

(Beall and Rio, 1996)

Blm^D3/Blm^D2 has chemical sensitive phenotype, non-suppressible by Irbp^6.8

(Beall and Rio, 1996)

Blm^D3/Blm^D2 has female sterile phenotype, non-suppressible by Irbp^Δ

(Beall and Rio, 1996)

Blm^D3/Blm^D2 has chemical sensitive phenotype, non-suppressible by Irbp^Δ

(Beall and Rio, 1996)

Enhancer of

Statement

Reference

Blm^D3/Blm^D2 is an enhancer of radiation sensitive phenotype of okr^A19-10/okr^17-11

(Kooistra et al., 1999)

Other

Statement

Reference

Blm^D3/Blm^D2, mus81^Nhe has lethal phenotype

(Trowbridge et al., 2007)

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

(Trowbridge et al., 2007)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

spn-A³/spn-A^093A suppresses the increase deletions resulting from the H{PΔ2-3}HoP2.1 driven of excision of P{hsw^a}sd^wa due to a mus309^D2/mus309^D3 background.

(McVey et al., 2004)

okr^17-11/okr^A19-10 mus309^D2/mus309^D3 double mutants show a synergistic effect on sensitivity to X rays; the sensitivity is increased 40 fold compared to wild-type in double mutants. mus309^D2/mus309^D3 mutants are slightly sensitive to methyl methanesulfonate (MMS). okr^17-11/okr^A19-10 mus309^D2/mus309^D3 double mutants do not show a synergistic effect on sensitivity to MMS.

(Kooistra et al., 1999)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Blm^D3/Df(3R)T-7 is rescued by Blm^hs.PK

(Kusano et al., 2001)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

8656

Blm^D3 ry⁵⁰⁶/TM3, Sb¹ ry^RK

Notes on Origin

Discoverer

Boyd.

Comments

Associated with a second unidentified mutagen-sensitive mutant allele.

(Boyd et al., 1981)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

Blm^D3

blm^D3

(Porrazzo et al., 2022)

mus309³

(Szabad, 1998.4.8)

mus309^D3

(Kappeler et al., 2008, McVey et al., 2007, Trowbridge et al., 2007, Wei and Rong, 2007, Portin, 2005)

mus309^d3

(Brodsky et al., 2000)

Name Synonyms

Secondary FlyBase IDs

References (15)

Report Sections

Open Close