FlyBase Allele Report: Dmel\Sb[63b]

Insertion of a blood element after exon 6, at a position corresponding to nucleotide 2028 of the Sb cDNA sequence. This results in a truncated 2.7kb transcript, which consists of Sb sequence up to nucleotide 2028 followed by 647bp of blood element sequences. A stop codon occurs after 66 nucleotides of blood sequence so that the protein product could include up to 22 amino acids derived from the blood element. A second insertion is also present in the 5' end of the gene.

(Hammonds and Fristrom, 2006)

Insertion between -55.5 and -57kb and another insertion at -61kb.

(Appel et al., 1993)

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 ( 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

lethal (with Sb⁷⁰)

(Bayer et al., 2003)

lethal | recessive

(Bayer et al., 2003)

partially lethal (with Sb¹)

(Hammonds and Fristrom, 2006)

visible | dominant

(Chen et al., 2004, Bayer et al., 2003, Gotwals and Fristrom, 1991)

Phenotype Manifest In

chaeta

(Bayer et al., 2003)

leg

(Chen et al., 2004, Fortier et al., 2003)

leg disc

(Fortier et al., 2003, Condic et al., 1991)

metatarsus

(Condic et al., 1991)

tibia

(Condic et al., 1991)

Detailed Description

Statement

Reference

8% of heterozygotes have a malformed leg phenotype.

(Chen et al., 2004)

Heterozygotes have wild-type leg and wing morphology. A dominant bristle phenotype is seen in the trochanter.

(Bayer et al., 2003)

Mutant leg discs exhibit defective cell shape changes that result in malformed short legs. Mutant leg discs fail to show the successful transformation of cells from anisometric to isometric in the basitarsal and tibial segments.

(Fortier et al., 2003)

Sb¹, T(2;3)Sb^V, and Sb^Spi are much less severe in phenotype, both in bristle length and frequency and severity of malformation of appendages, than Sb^63b and Sb⁷⁰.

(Appel, 1995)

Sb bristles have more actin filament bundles than normal (25-30 as opposed to the wild type 15-18). These filament bundles are abnormally irregular in thickness and arrangement from the first stage they can be seen in pupal development. By 40 hrs of pupal development filament elongation stops abruptly, resulting in short, blunt ended bristles.

(Appel et al., 1993)

Leg discs do not elongate properly in Sb¹/Sb^63b flies; cells in the basitarsus and tibia do not extend normally and cells in this region remain highly anisometric in shape.

(Condic et al., 1991)

zip interacts to some degree with all Sb dominant mutations.

(Gotwals and Fristrom, 1991)

Bristles of Sb^63b/+ somewhat shorter and thicker than Sb¹. Wings and legs normal. Homozygote shows reduced viability, short, thick bristles, small wings, and short deformed legs (Beaton et al., 1988; FBrf0048216). Sb^63b/Sb¹ viable and fertile, more extreme than either heterozygote. RK1. strong allele homozygous viable

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Sb^63b has visible | dominant phenotype, enhanceable by Rho1^72O/Rho1[+]

(Chen et al., 2004)

Sb^63b has visible | dominant phenotype, enhanceable by rok[+]/Rok¹

(Chen et al., 2004)

Sb^63b has visible | dominant phenotype, enhanceable by LIMK1^D522A.UAS/Scer\GAL4^hs.PB

(Chen et al., 2004)

Sb^63b has visible | dominant phenotype, enhanceable by Rho1[+]/Rho1^k02107b

(Chen et al., 2004)

Sb^63b has visible | dominant phenotype, enhanceable by zip[+]/zip^Ebr

(Chen et al., 2004)

NOT Enhanced by

Statement

Reference

Sb^63b has visible | dominant phenotype, non-enhanceable by Cdc42[+]/Cdc42³

(Chen et al., 2004)

Sb^63b has visible | dominant phenotype, non-enhanceable by Cdc42[+]/Cdc42⁴

(Chen et al., 2004)

Sb^63b has visible | dominant phenotype, non-enhanceable by Rac1^J11/Rac1[+]

(Chen et al., 2004)

Sb^63b has visible | dominant phenotype, non-enhanceable by Rac2³¹⁴/Rac2[+]

(Chen et al., 2004)

Enhancer of

Statement

Reference

Sb^63b/Sb[+] is an enhancer of visible phenotype of Drak^del

(Neubueser and Hipfner, 2010)

Sb^63b/Sb[+] is an enhancer of visible phenotype of Drak^KO

(Neubueser and Hipfner, 2010)

Sb^63b/Sb[+] is an enhancer of visible phenotype of LIMK1^D522A.UAS, Scer\GAL4^hs.PB

(Chen et al., 2004)

Other

Statement

Reference

E(zip)31-6^31-6, Sb^63b/Sb[+] has visible | dominant phenotype

(Bayer et al., 2003)

Rho1^J3.8, Sb^63b/Sb[+] has visible phenotype

(Bayer et al., 2003)

RhoGEF2⁰⁴²⁹¹, Sb^63b/Sb[+] has visible phenotype

(Bayer et al., 2003)

RhoGEF2^1.1, Sb^63b/Sb[+] has visible phenotype

(Bayer et al., 2003)

Df(2R)Jp1/+, Sb^63b has visible | dominant phenotype

(Bayer et al., 2003)

Df(2R)Jp8/+, Sb^63b has visible | dominant phenotype

(Bayer et al., 2003)

Rho1^72F/Rho1[+], Sb^63b has visible | dominant phenotype

(Bayer et al., 2003)

Rho1^72O/Rho1[+], Sb^63b has visible | dominant phenotype

(Bayer et al., 2003)

Rho1^E3.10/Rho1[+], Sb^63b has visible | dominant phenotype

(Bayer et al., 2003)

RhoGEF2⁰⁴²⁹¹/RhoGEF2[+], Sb^63b has visible | dominant phenotype

(Bayer et al., 2003)

Rho1^72F, Sb^63b/Sb[+] has visible phenotype

(Bayer et al., 2003)

RhoGEF2^1.1/RhoGEF2[+], Sb^63b has visible | dominant phenotype

(Bayer et al., 2003)

RhoGEF2^11-3/RhoGEF2[+], Sb^63b has visible | dominant phenotype

(Bayer et al., 2003)

RhoGEF2^11-3/RhoGEF2[+], Sb^63b has visible phenotype

(Bayer et al., 2003)

rok[+]/Rok¹, Sb^63b has visible | dominant phenotype

(Bayer et al., 2003)

rok[+]/Rok², Sb^63b has visible | dominant phenotype

(Bayer et al., 2003)

E(zip)12-5[+]/E(zip)12-5^12-5, Sb^63b has visible phenotype

(Bayer et al., 2003)

E(zip)18-5[+]/E(zip)18-5^18-5, Sb^63b has visible phenotype

(Bayer et al., 2003)

E(zip)31-6^31-6/E(zip)31-6[+], Sb^63b has visible phenotype

(Bayer et al., 2003)

Rho1^12-6/Rho1[+], Sb^63b has visible phenotype

(Bayer et al., 2003)

Sb^63b, zip^33-1/zip[+] has visible phenotype

(Bayer et al., 2003)

Rho1^J3.8/Rho1[+], Sb^63b has visible | dominant phenotype

(Bayer et al., 2003)

Rho1^72O, Sb^63b/Sb[+] has visible phenotype

(Bayer et al., 2003)

Rok², Sb^63b/Sb[+] has visible phenotype

(Bayer et al., 2003)

Sb^63b/Sb[+], zip^33-1 has visible | dominant phenotype

(Bayer et al., 2003)

Rok¹, Sb^63b/Sb[+] has visible phenotype

(Bayer et al., 2003)

RhoGEF2^11-3, Sb^63b/Sb[+] has visible | dominant phenotype

(Bayer et al., 2003)

RhoGEF2^11-3, Sb^63b/Sb[+] has visible phenotype

(Bayer et al., 2003)

Rho1^E3.10, Sb^63b/Sb[+] has visible phenotype

(Bayer et al., 2003)

Rho1^12-6, Sb^63b/Sb[+] has visible | dominant phenotype

(Bayer et al., 2003)

E(zip)12-5^12-5, Sb^63b/Sb[+] has visible | dominant phenotype

(Bayer et al., 2003)

E(zip)18-5^18-5, Sb^63b/Sb[+] has visible | dominant phenotype

(Bayer et al., 2003)

Phenotype Manifest In

Enhanced by

Statement

Reference

Sb^63b has leg phenotype, enhanceable by Rho1^72O/Rho1[+]

(Chen et al., 2004)

Sb^63b has leg phenotype, enhanceable by rok[+]/Rok¹

(Chen et al., 2004)

Sb^63b has leg phenotype, enhanceable by LIMK1^D522A.UAS/Scer\GAL4^hs.PB

(Chen et al., 2004)

Sb^63b has leg phenotype, enhanceable by Rho1[+]/Rho1^k02107b

(Chen et al., 2004)

Sb^63b has leg phenotype, enhanceable by zip[+]/zip^Ebr

(Chen et al., 2004)

NOT Enhanced by

Statement

Reference

Sb^63b has leg phenotype, non-enhanceable by Cdc42[+]/Cdc42³

(Chen et al., 2004)

Sb^63b has leg phenotype, non-enhanceable by Cdc42[+]/Cdc42⁴

(Chen et al., 2004)

Sb^63b has leg phenotype, non-enhanceable by Rac1^J11/Rac1[+]

(Chen et al., 2004)

Sb^63b has leg phenotype, non-enhanceable by Rac2³¹⁴/Rac2[+]

(Chen et al., 2004)

Enhancer of

Statement

Reference

Sb^63b/Sb[+] is an enhancer of wing phenotype of Drak^del

(Neubueser and Hipfner, 2010)

Sb^63b/Sb[+] is an enhancer of wing phenotype of Drak^KO

(Neubueser and Hipfner, 2010)

Sb^63b/Sb[+] is an enhancer of leg phenotype of LIMK1^D522A.UAS, Scer\GAL4^hs.PB

(Chen et al., 2004)

Other

Statement

Reference

E(zip)31-6^31-6, Sb^63b/Sb[+] has wing phenotype

(Bayer et al., 2003)

Rho1^J3.8, Sb^63b has wing phenotype

(Bayer et al., 2003)

Rho1^J3.8, Sb^63b has leg phenotype

(Bayer et al., 2003)

RhoGEF2⁰⁴²⁹¹, Sb^63b has leg phenotype

(Bayer et al., 2003)

RhoGEF2^1.1, Sb^63b has leg phenotype

(Bayer et al., 2003)

Df(2R)Jp1/+, Sb^63b has leg phenotype

(Bayer et al., 2003)

E(zip)31-6^31-6, Sb^63b/Sb[+] has leg phenotype

(Bayer et al., 2003)

Df(2R)Jp8/+, Sb^63b has leg phenotype

(Bayer et al., 2003)

Rho1^72F/Rho1[+], Sb^63b has leg phenotype

(Bayer et al., 2003)

Rho1^72O/Rho1[+], Sb^63b has leg phenotype

(Bayer et al., 2003)

Rho1^E3.10/Rho1[+], Sb^63b has wing phenotype

(Bayer et al., 2003)

Rho1^E3.10/Rho1[+], Sb^63b has leg phenotype

(Bayer et al., 2003)

RhoGEF2⁰⁴²⁹¹/RhoGEF2[+], Sb^63b has leg phenotype

(Bayer et al., 2003)

RhoGEF2^1.1/RhoGEF2[+], Sb^63b has leg phenotype

(Bayer et al., 2003)

RhoGEF2^11-3/RhoGEF2[+], Sb^63b has leg phenotype

(Bayer et al., 2003)

rok[+]/Rok¹, Sb^63b has leg phenotype

(Bayer et al., 2003)

rok[+]/Rok², Sb^63b has leg phenotype

(Bayer et al., 2003)

Rho1^72F, Sb^63b has leg phenotype

(Bayer et al., 2003)

Rho1^J3.8/Rho1[+], Sb^63b has wing phenotype

(Bayer et al., 2003)

Rho1^J3.8/Rho1[+], Sb^63b has leg phenotype

(Bayer et al., 2003)

E(zip)12-5^12-5, Sb^63b has wing phenotype

(Bayer et al., 2003)

E(zip)12-5^12-5, Sb^63b has leg phenotype

(Bayer et al., 2003)

E(zip)18-5^18-5, Sb^63b has wing phenotype

(Bayer et al., 2003)

E(zip)18-5^18-5, Sb^63b has leg phenotype

(Bayer et al., 2003)

E(zip)31-6^31-6, Sb^63b has wing phenotype

(Bayer et al., 2003)

E(zip)31-6^31-6, Sb^63b has leg phenotype

(Bayer et al., 2003)

Rho1^12-6, Sb^63b has wing phenotype

(Bayer et al., 2003)

Rho1^12-6, Sb^63b has leg phenotype

(Bayer et al., 2003)

RhoGEF2^11-3, Sb^63b has wing phenotype

(Bayer et al., 2003)

RhoGEF2^11-3, Sb^63b has leg phenotype

(Bayer et al., 2003)

Sb^63b, zip^33-1 has leg phenotype

(Bayer et al., 2003)

Rok¹, Sb^63b has wing phenotype

(Bayer et al., 2003)

Rho1^72O, Sb^63b has leg phenotype

(Bayer et al., 2003)

Rok², Sb^63b has leg phenotype

(Bayer et al., 2003)

Sb^63b/Sb[+], zip^33-1 has leg phenotype

(Bayer et al., 2003)

Rok¹, Sb^63b has leg phenotype

(Bayer et al., 2003)

Rok¹, Sb^63b/Sb[+] has wing phenotype

(Bayer et al., 2003)

RhoGEF2^11-3, Sb^63b/Sb[+] has wing phenotype

(Bayer et al., 2003)

RhoGEF2^11-3, Sb^63b/Sb[+] has leg phenotype

(Bayer et al., 2003)

Rho1^12-6, Sb^63b/Sb[+] has wing phenotype

(Bayer et al., 2003)

Rho1^12-6, Sb^63b/Sb[+] has leg phenotype

(Bayer et al., 2003)

E(zip)12-5^12-5, Sb^63b/Sb[+] has wing phenotype

(Bayer et al., 2003)

E(zip)12-5^12-5, Sb^63b/Sb[+] has leg phenotype

(Bayer et al., 2003)

E(zip)18-5^18-5, Sb^63b/Sb[+] has wing phenotype

(Bayer et al., 2003)

E(zip)18-5^18-5, Sb^63b/Sb[+] has leg phenotype

(Bayer et al., 2003)

Rho1^E3.10, Sb^63b has wing phenotype

(Bayer et al., 2003)

Rho1^E3.10, Sb^63b has leg phenotype

(Bayer et al., 2003)

Additional Comments

Genetic Interactions

Statement

Reference

Sb^63b dominantly enhances the shortening of the wing which is seen in Drak^KO and in Drak^del flies.

(Neubueser and Hipfner, 2010)

The frequency of the malformed leg phenotype seen in Sb^63b/+ heterozygotes (8%) is increased if the flies are also heterozygous for Rho1^72O (31%), Rho1^k02107b (93%), rok¹ (24%) or zip^Ebr (63%). The frequency of the malformed leg phenotype seen in Sb^63b/+ heterozygotes (8%) is not increased if the flies are also heterozygous for Rac1^J11/+ (3%), Rac2³¹⁴/+ (4%), Cdc42³/+ (3%) or Cdc42⁴/+ (6%). Expression of LIMK1^{D522A.Scer\UAS} under the control of Scer\GAL4^hs.PB enhances the frequency of the malformed leg phenotype seen in Sb^63b/+ heterozygotes from 8% to 58%.

(Chen et al., 2004)

Rho1^E3.10/+ ; Sb^63b/+ flies have crumpled wings. Sb^63b shows a strong interaction (at least 50% of double heterozygotes have at least one malformed leg) with the following mutations: Rho1^12-6, Rho1^J3.8, Rho1^E3.10, Rho1^72F, Rho1^72O and Df(2R)Jp8. Sb^63b shows a moderate interaction (25-49% of double heterozygotes have at least one malformed leg) with the following mutations: RhoGEF2^11-3, rok², Df(2R)Jp1 and E(zip)18-5^18-5. Sb^63b shows a weak interaction (5-24% of double heterozygotes have at least one malformed leg) with the following mutations: E(zip)31-6^31-6, zip^33-1, RhoGEF2^1.1, RhoGEF2⁰⁴²⁹¹, rok¹ and E(zip)12-5^12-5. Sb^63b shows no interaction with Pkn³ or Pkn⁰⁶⁷³⁶ (assayed in terms of a malformed leg phenotype). Sb^63b shows a strong interaction (at least 50% of double heterozygotes have at least one malformed wing) with the following mutations: Rho1^E3.10 and Rho1^J3.8. Sb^63b shows a strong interaction (at least 50% of double heterozygotes have at least one malformed wing) with the following mutations: RhoGEF2^11-3 and Rho1^12-6. Sb^63b shows a moderate interaction (25-49% of double heterozygotes have at least one malformed wing) with the following mutations: E(zip)31-6^31-6. Sb^63b shows a weak interaction (5-24% of double heterozygotes have at least one malformed wing) with the following mutations: E(zip)18-5^18-5, rok¹ and E(zip)12-5^12-5.

(Bayer et al., 2003)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Not rescued by

Sb^63b/Sb[+] is not rescued by Sb^hs.PB

(Hammonds and Fristrom, 2006)

Sb^63b/Df(3R)sbd105 is not rescued by Sb^hs.PB

(Hammonds and Fristrom, 2006)

Comments

Allelism inferred from failure to recover recombinants among 100 progeny of Sb^63b/Sb¹.

Images (0)

Mutant

Wild-type

Stocks (11)

Bloomington

1130

y¹; mwh¹ bald¹ Sb^63b/TM2

1645

y¹; Dp(1;3)sc^J4, y⁺ bald¹ Sb^63b/TM2

2045

y¹ w¹¹¹⁸; P{neoFRT}82B P{πM}87E Sb^63b P{Car20y}96E/TM6B, ry^* Tb⁺

43338

y¹ w^*; P{GawB}sca^109-68, P{UAS-p35.H}BH1; P{neoFRT}82B P{πM}87E Sb^63b P{Car20y}96E/TM6B, Tb¹

43337

P{Ubx-FLP}1, y¹ w^*; P{Car20y}25F wb³ ck¹³ P{neoFRT}40A/CyO; P{neoFRT}82B P{πM}87E Sb^63b P{Car20y}96E/TM3, Ser¹

42733

P{Ubx-FLP}1, y¹ w^*; P{Ubi-GFP(S65T)nls}2L P{neoFRT}40A; P{neoFRT}82B P{πM}87E Sb^63b P{Ubi-GFP(S65T)nls}3R/T(2;3)TSTL, CyO: TM6B, Tb¹

42727

y¹ w^* P{Ubx-FLP}1; P{GawB}sca^DB, P{UAS-pon.GFP.LD}2, P{UAS-Tau-GFP.m6}2/CyO; P{neoFRT}82B P{πM}87E Sb^63b P{Car20y}96E/TM6B, Tb⁺

Kyoto

106428

y¹; y⁺ bald¹ Sb^63b/TM2

106216

y¹; mwh¹ bald¹ Sb^63b/TM2

101926

y^* w¹¹¹⁸ ; P{neoFRT}82B P{πM}87E Sb^63b P{Car20y}96E / TM6B, ry^*

106638

y¹ w¹¹¹⁸; P{neoFRT}82B P{πM}87E Sb^63b P{Car20y}96E/TM6B, ry^* Tb⁺

Notes on Origin

Discoverer

Merriam, Feb. 1963.

Comments

Transcript analysis suggests that the insertion at -61kb is spliced out of the transcript suggesting that the insertion between -55.5 and -57kb is the one responsible for the mutant phenotype.

(Appel et al., 1993)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Sb⁶³

(Appel et al., 1993)

Sb^63b

(Neubueser and Hipfner, 2010, Hammonds and Fristrom, 2006)

Name Synonyms

Secondary FlyBase IDs

References (11)

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