FlyBase Allele Report: Dmel\Hip14[1]

General Information

Symbol

Dmel\Hip14¹

Species

D. melanogaster

Name

FlyBase ID

FBal0217481

Feature type

allele

Associated gene

Dmel\Hip14

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Ohyama et al., 2007)

Progenitor genotype

Cytology

Description

Amino acid replacement: C452Y.

(Ohyama et al., 2007)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:15,990,244..15,990,244 [+]

Nucleotide change:

G15990244A

Amino acid change:

C452Y | Hip14-PA; C452Y | Hip14-PB; C452Y | Hip14-PC

Reported amino acid change:

C452Y

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Ohyama et al., 2007)

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

Phenotype Manifest In

embryonic/larval neuromuscular junction (with Df(3L)brm11)

(Ohyama et al., 2007)

retina | somatic clone

(Ohyama et al., 2007)

synapse & eye photoreceptor cell | somatic clone

(Ohyama et al., 2007)

Detailed Description

Statement

Reference

The electroretinograms (ERGs) of flies in which the eyes are composed of homozygous tissue are abnormal; they lack the on and off transients, but depolarisation is normal.

Ultrastructural analysis of mutant photoreceptor synapses in the lamina (in flies in which the eyes are composed of homozygous tissue) shows that capitate projections are often shallow in mutants compared with controls.

Hip14¹/Df(3L)brm11 mutant third larval instar neuromuscular junctions (NMJs) take up less dye than controls in an assay of vesicle cycling.

Hip14¹/Df(3L)brm11 mutant third larval instar NMJs have similar miniature excitatory junctional potential (EJP) amplitude and frequency compared to controls. However, the evoked EJP amplitude is reduced compared to controls at 23^oC.

(Ohyama et al., 2007)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hip14²/Hip14¹ has abnormal neurophysiology | third instar larval stage phenotype, suppressible | partially by Scer\GAL4^elav-C155/Csp::nSyb^TMD.UAS

(Ohyama et al., 2007)

NOT suppressed by

Statement

Reference

Hip14²/Hip14¹ has abnormal neurophysiology | third instar larval stage phenotype, non-suppressible by Scer\GAL4^elav-C155/Csp^2.UAS

(Ohyama et al., 2007)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hip14²/Hip14¹ has embryonic/larval neuromuscular junction phenotype, suppressible | partially by Scer\GAL4^elav-C155/Csp::nSyb^TMD.UAS

(Ohyama et al., 2007)

NOT suppressed by

Statement

Reference

Hip14²/Hip14¹ has embryonic/larval neuromuscular junction phenotype, non-suppressible by Scer\GAL4^elav-C155/Csp^2.UAS

(Ohyama et al., 2007)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Csp::n-syb^TMD.Scer\UAS under the control of Scer\GAL4^elav-C155 partially rescues the reduced amplitude of the excitatory junctional potential at the Hip14¹/Hip14² neuromuscular junction at 30^oC.

Expression of Csp^2.Scer\UAS under the control of Scer\GAL4^elav-C155 does not rescue the reduced amplitude of the excitatory junctional potential at the Hip14¹/Hip14² neuromuscular junction at 30^oC.

(Ohyama et al., 2007)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Hip14¹ is rescued by Hip14^{+tCH322-55J22}

(Venken et al., 2009)

Hip14¹/Df(3L)brm11 is rescued by Hip14^+t6.5

(Ohyama et al., 2007)

Hip14¹/Df(3L)brm11 is rescued by Scer\GAL4^elav-C155/Hip14^UAS.cOa

(Ohyama et al., 2007)