FlyBase Allele Report: Dmel\CTCF[y+1]

General Information

Symbol

Dmel\CTCF^y+1

Species

D. melanogaster

Name

FlyBase ID

FBal0240941

Feature type

allele

Associated gene

Dmel\CTCF

Associated Insertion(s)

P{3'EPgy2}CTCF^y+1

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

Delta2-3 transposase

(Gerasimova et al., 2007)

P-element activity

(Savitsky et al., 2016)

Progenitor genotype

P{EPgy2}CTCF^EY15833

(Savitsky et al., 2016)

CTCF^EY15833

(Gerasimova et al., 2007)

Associated Insertion(s)

P{3'EPgy2}CTCF^y+1

Cytology

Description

3.3kb deletion generated by imprecise excision of P{EPgy2}CTCF^EY15833. The entire CTCF gene and a small part of the 3'UTR of the neighbouring qm gene have been deleted. Much of the original inserted P{EPgy2} element is still present: the y^+mDint2 marker is functional, while the 5' P-element end and 3' part of the w^+mC marker have been deleted (rendering the w gene non-functional). 20 nucleotides of unknown origin are present at the junction between the deletion breakpoints.

(Savitsky et al., 2016)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

delins

3L:7,353,339..7,356,662 [-]

Comment:

Inferred boundaries of a 3.3 kb deletion associated with the imprecise excsion of P{EPgy2}CTCF^EY15833. 20 novel nucleotides are inserted at the site of the excision. The deletion endpoint downstream of CTCF was reported as 3L:7346339 in R5 coordinates.

(Savitsky et al., 2016)

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 ( 0 )

Disease

Evidence

References

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

homeotic (with CTCF^EY15833)

(Savitsky et al., 2016)

homeotic (with CTCF^GE24185)

(Savitsky et al., 2016)

homeotic | adult stage (with CTCF^P30.6)

(Gambetta and Furlong, 2018)

homeotic | pharate adult stage (with CTCF^P35.2)

(Savitsky et al., 2016)

lethal - all die during pharate adult stage (with CTCF^P35.2)

(Savitsky et al., 2016)

short lived (with CTCF^KO)

(Gambetta and Furlong, 2018)

some die during pharate adult stage (with CTCF^P30.6)

(Gambetta and Furlong, 2018)

viable (with CTCF^EY15833)

(Savitsky et al., 2016)

viable (with CTCF^GE24185)

(Savitsky et al., 2016)

Phenotype Manifest In

abdomen | adult stage (with CTCF^P30.6)

(Gambetta and Furlong, 2018)

abdominal segment 6 (with CTCF^EY15833)

(Savitsky et al., 2016)

abdominal segment 6 (with CTCF^GE24185)

(Savitsky et al., 2016)

abdominal segment 6 | pharate adult stage (with CTCF^P35.2)

(Savitsky et al., 2016)

abdominal segment 7 (with CTCF^EY15833)

(Savitsky et al., 2016)

abdominal segment 7 (with CTCF^GE24185)

(Savitsky et al., 2016)

abdominal segment 7 | pharate adult stage (with CTCF^P35.2)

(Savitsky et al., 2016)

abdominal segment 8 (with CTCF^EY15833)

(Savitsky et al., 2016)

abdominal segment 8 (with CTCF^GE24185)

(Savitsky et al., 2016)

abdominal segment 8 | pharate adult stage (with CTCF^P35.2)

(Savitsky et al., 2016)

abdominal segment | adult stage (with CTCF^P30.6)

(Gambetta and Furlong, 2018)

abdominal sternite (with CTCF^EY15833)

(Savitsky et al., 2016)

abdominal sternite (with CTCF^GE24185)

(Savitsky et al., 2016)

abdominal sternite | pharate adult stage (with CTCF^P35.2)

(Savitsky et al., 2016)

abdominal sternite bristle (with CTCF^EY15833)

(Savitsky et al., 2016)

abdominal sternite bristle (with CTCF^GE24185)

(Savitsky et al., 2016)

abdominal sternite bristle | pharate adult stage (with CTCF^P35.2)

(Savitsky et al., 2016)

abdominal tergite (with CTCF^EY15833)

(Savitsky et al., 2016)

abdominal tergite (with CTCF^GE24185)

(Savitsky et al., 2016)

abdominal tergite | pharate adult stage (with CTCF^P35.2)

(Savitsky et al., 2016)

male genitalia (with CTCF^EY15833)

(Savitsky et al., 2016)

male genitalia (with CTCF^GE24185)

(Savitsky et al., 2016)

male genitalia | pharate adult stage (with CTCF^P35.2)

(Savitsky et al., 2016)

Detailed Description

Statement

Reference

CTCF^P30.6/CTCF^y+1 transheterozygous zygotic mutants mostly reach adulthood, with some dying as pharate adults.

CTCF^y+1/CTCF^P30.6 zygotic mutant adults exhibit homeotic transformations in the abdomen.

(Gambetta and Furlong, 2018)

CTCF^y+1/CTCF^P35.2 males and females extracted from pupal cases show posterior-to-anterior homeotic transformations of abdominal segments A8-A6: in males genitalia is rotated 90-180[o] (100% penetrance), s6 (sternite of the sixth segment) has 6-10 (average 8) bristles; in females s7 has 11-14 (average 12) bristles, the shape of s7 is transformed toward s6 and bristles lose orientation, and t8 (tergite of the eighth segment) has rows of large bristles.

CTCF^y+1/CTCF^GE24185 are viable and show posterior-to-anterior homeotic transformations of abdominal segments A8-A6: in males genitalia is rotated 30-180[o] (70% penetrance), s6 has 4-9 (average 7) bristles, and t7 is well developed; in females s7 has 8-12 (average 10) bristles, the shape of s7 is transformed toward s6 and bristles lose orientation, and t8 has a row of large bristles.

CTCF^y+1/CTCF^EY15833 are viable and show posterior-to-anterior homeotic transformations of abdominal segments A8-A6: in males s6 has 0-6 (average 2.5) bristles, 15% have genitalia rotated by approximately 30[o], and t7 is well developed (100% penetrance); in females s7 has 9-14 (average 12) bristles, the shape of s7 is transformed toward s6 and bristles lose orientation (100%), and t8 has a row of small (100%) and several large (15%) bristles.

(Savitsky et al., 2016)

CTCF^y+1 mutants are late pupal lethal, although some individuals survive to the pharate adult stage.

(Gerasimova et al., 2007)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

CTCF^EY15833/CTCF^y+1 has homeotic phenotype, enhanceable by mod(mdg4)^m9/mod(mdg4)^GS23019

(Savitsky et al., 2016)

Other

Statement

Reference

CTCF^EY15833/CTCF^y+1, mod(mdg4)^neo129/mod(mdg4)^m9 has lethal - all die during prepupal stage phenotype

(Savitsky et al., 2016)

CTCF^EY15833/CTCF^y+1, mod(mdg4)^m9/mod(mdg4)^GS23019 has lethal - all die before end of P-stage phenotype

(Savitsky et al., 2016)

CTCF^EY15833/CTCF^y+1, mod(mdg4)^m9/mod(mdg4)^GS23019 has majority die during prepupal stage phenotype

(Savitsky et al., 2016)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

CTCF^y+1 mod(mdg4)^neo129 / CTCF^EY15833 mod(mdg4)^m9 show early pupal lethality (stage P1-4).

CTCF^y+1 mod(mdg4)^GS23019 / CTCF^EY15833 mod(mdg4)^m9 show early pupal lethality (stage P1-4), with rare escapers that die at pharate adult stage and show strong homeotic transformations: in males genitalia is rotated by 180[o], s6 has 4-11 (average 9) bristles, display a small cuticle structure with 1-2 bristles interpreted as s7, t7 is well developed, and t8 is well separated from t9 and bears rows of large bristles; in females phenotypes are as in CTCF^y+1/CTCF^EY15833 but t8 always has rows of large bristles.

(Savitsky et al., 2016)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

CTCF^P35.2/CTCF^y+1 is rescued by CTCF^{Ubi-p63E.Tag:StrepII}

(Savitsky et al., 2016)

CTCF⁹/CTCF^y+1 is rescued by CTCF^{Ubi-p63E.Tag:StrepII}

(Savitsky et al., 2016)

CTCF^y+1 is rescued by CTCF^{Ubi-p63E.Tag:StrepII}

(Savitsky et al., 2016)