FlyBase Allele Report: Dmel\Fak[K24]

General Information

Symbol

Dmel\Fak^K24

Species

D. melanogaster

Name

FlyBase ID

FBal0280003

Feature type

allele

Associated gene

Dmel\Fak

Associated Insertion(s)

Carried in Construct

Also Known As

Fak56^K24

Key Links

Allele class

amorphic allele - molecular evidence

Mutagen

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Tsai et al., 2008)

Mutagen

Delta2-3 transposase

(Tsai et al., 2008)

recombination

(Tsai et al., 2008)

Progenitor genotype

P{SUPor-P}Fak^KG00304

(Tsai et al., 2008)

Caused by aberration

Df(2R)Fak^K24

Cytology

Description

Male specific recombination has resulted in a 13kb deletion, extending from the 3' end of the progenitor insertion to +1191bp downstream of the hts transcription start site. The deletion removes Fak, CalpA and part of hts. The original insertion is still present in the Fak 5'UTR.

(Tsai et al., 2008)

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

abnormal neuroanatomy | larval stage (with Fak^N30)

(Tsai et al., 2012)

abnormal neuroanatomy | third instar larval stage (with Fak^N30)

(Tsai et al., 2012, Tsai et al., 2008)

abnormal neurophysiology | third instar larval stage (with Fak^N30)

(Tsai et al., 2008)

viable

(Tsai et al., 2008)

Phenotype Manifest In

neuromuscular junction | third instar larval stage (with Fak^N30)

(Tsai et al., 2008)

NMJ bouton | increased number | third instar larval stage (with Fak^N30)

(Tsai et al., 2012, Tsai et al., 2008)

NMJ bouton | larval stage | increased number (with Fak^N30)

(Tsai et al., 2012)

Detailed Description

Statement

Reference

Fak^N30/Fak^K24 larvae show an increase in bouton number per muscle area at the neuromuscular junction compared to wild type.

(Tsai et al., 2012)

At 22[o]C, Fak^N30/Fak^K24 larvae have enlarged neuromuscular junctions (NMJs) (increased bouton number per muscle area) compared to controls. When reared at 29[o]C, the mutant larvae show no further increase in NMJ size, in contrast to wild-type controls, which show enlarged NMJs at 29[o]C compared to at 22[o]C. The mutant larvae do not show an increase in NMJ size after 8 hours food deprivation, in contrast to controls.

(Tsai et al., 2012)

The neuromuscular junction is overgrown compared to wild type in Fak^N30/Fak^K24 third instar larvae. The number of boutons per muscle area and NMJ length per muscle area are increased (by 44% and 22% respectively) compared to wild type. There is a reduction in secondary branches and an increase in higher-order branches at the muscle 6/7 NMJ compared to wild type.

The amplitude and frequency of the miniature excitatory junctional potential (mEJP) is normal at the Fak^N30/Fak^K24 neuromuscular junction. However, the mean amplitude of the evoked EJP is significantly increased compared to wild type.

(Tsai et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Fak^K24/Fak^N30 has abnormal neuroanatomy | third instar larval stage phenotype, enhanceable by Src42A^E1/Src42A[+]/Src64B[+]/Src64B^PI

(Tsai et al., 2008)

NOT Enhanced by

Statement

Reference

Fak^K24/Fak^N30 has abnormal neuroanatomy | larval stage phenotype, non-enhanceable by Adcy1^rut-1

(Tsai et al., 2012)

Suppressed by

Statement

Reference

Fak^K24/Fak^N30 has abnormal neuroanatomy | larval stage phenotype, suppressible by Scer\GAL4^elav.PU/Nf1^UAS.CFP

(Tsai et al., 2012)

NOT suppressed by

Statement

Reference

Fak^K24/Fak^N30 has abnormal neuroanatomy | larval stage phenotype, non-suppressible by Adcy1^rut-1

(Tsai et al., 2012)

Phenotype Manifest In

Enhanced by

Statement

Reference

Fak^K24/Fak^N30 has neuromuscular junction | third instar larval stage phenotype, enhanceable by Src42A^E1/Src42A[+]/Src64B[+]/Src64B^PI

(Tsai et al., 2008)

NOT Enhanced by

Statement

Reference

Fak^K24/Fak^N30 has NMJ bouton | larval stage | increased number phenotype, non-enhanceable by Adcy1^rut-1

(Tsai et al., 2012)

Suppressed by

Statement

Reference

Fak^K24/Fak^N30 has NMJ bouton | increased number | larval stage phenotype, suppressible by Scer\GAL4^elav.PU/Nf1^UAS.CFP

(Tsai et al., 2012)

NOT suppressed by

Statement

Reference

Fak^K24/Fak^N30 has NMJ bouton | increased number | larval stage phenotype, non-suppressible by Adcy1^rut-1

(Tsai et al., 2012)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Nf1^{Scer\UAS.T:Avic\GFP-CFP} under the control of Scer\GAL4^elav.PU rescues the neuromuscular junction overgrowth phenotype seen in Fak^N30/Fak^K24 larvae.

The neuromuscular junction overgrowth phenotype seen in Fak^N30/Fak^K24 larvae is unaffected if the larvae are also hemizygous for rut¹.

(Tsai et al., 2012)

The overgrowth at the NMJ (increased bouton number per muscle area) seen in Fak^N30/Fak^K24 third instar larvae is enhanced if they are also carrying both Src42A^E1/+ and Src64B^PI/+.

(Tsai et al., 2008)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Fak^K24/Fak^N30 is rescued by Scer\GAL4^elav.PU/Fak^UAS.Tag:HA

(Tsai et al., 2008)

Not rescued by

Fak^K24/Fak^N30 is not rescued by Fak^UAS.Tag:HA/Scer\GAL4^Mhc.PW

(Tsai et al., 2008)

Comments

The neuromuscular junction defects seen in Fak^N30/Fak^K24 larvae are rescued by expression of Fak^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^elav.PU, but not under the control of Scer\GAL4^Mhc.PW.

(Tsai et al., 2008)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Fak56^K24

(Tsai et al., 2012, Tsai et al., 2012, Tsai et al., 2008, Tsai et al., 2008)

Fak^K24

Name Synonyms

Secondary FlyBase IDs

References (4)

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