FlyBase Allele Report: Dmel\hook[11]

General Information

Symbol

Dmel\hook¹¹

Species

D. melanogaster

Name

FlyBase ID

FBal0086542

Feature type

allele

Associated gene

Dmel\hook

Associated Insertion(s)

Carried in Construct

Also Known As

hk¹¹

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

ethyl nitrosourea

Nature of the Allele

Allele class

loss of function allele

(Kramer and Phistry, 1999, Kramer et al., 1998)

Mutagen

ethyl nitrosourea

(Kramer and Phistry, 1999)

Progenitor genotype

Cytology

Description

Nucleotide substitution: G575A, in a splice acceptor site. This results in a C-terminally truncated protein.

(Kramer and Phistry, 1999)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:19,033,209..19,033,209 [-]

Nucleotide change:

G19033209A

Comment:

Alters splice acceptor site; results in a 60aa polypeptide.

(Kramer and Phistry, 1999)

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 ( 1 )

Disease

Interaction

References

exacerbates frontotemporal dementia and/or amyotrophic lateral sclerosis 7

modeled by Hsap\CHMP2B^Intron5.UAS

(Lu et al., 2020)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy

(Narayanan et al., 2000)

abnormal neurophysiology

(Narayanan et al., 2000)

fertile

(Kramer and Phistry, 1999, Kramer et al., 1998)

short lived | male (with hook¹)

(Simonsen et al., 2007)

viable

(Kramer and Phistry, 1999, Kramer et al., 1998)

visible | recessive

(Kramer and Phistry, 1999)

Phenotype Manifest In

bouton | increased number

(Narayanan et al., 2000)

endosome

(Sunio et al., 1999)

lysosome

(Sunio et al., 1999)

macrochaeta

(Kramer and Phistry, 1999, Kramer et al., 1998)

multivesicular body

(Sunio et al., 1999)

synapse

(Narayanan et al., 2000)

Detailed Description

Statement

Reference

hk¹/hk¹¹ males have a shortened adult life span compared to controls, with a mean life span of 18.76 days at 25^o.

(Simonsen et al., 2007)

Synapse size is increased in hk¹¹ mutants. The number of boutons per hemisegment is increased in hk¹¹ mutants compared to wild-type. In hk¹¹ mutants the size of miniature excitatory junctional potentials (mEJPs) is slightly increased compared to wild-type. mEJPs in hk¹¹ mutants follow an almost identical distribution of quantal amplitudes compared to wild-type, except for a few large events in hk¹¹ mutants, whose origins remain unclear.

(Narayanan et al., 2000)

Hemizygotes and homozygotes have a hooked-bristle phenotype. Hemizygous or hk¹/hk¹¹ flies do not show any sign of retinal degeneration.

(Kramer and Phistry, 1999)

The number of small, immature multivesicular bodies (MVBs) in the ommatidia of hk¹¹ larval eye disks is not altered compared to wild type. The number of large mature MVBs is one-sixth that of wild type. The number of multilammelar late endosomes or lysosomes is increased compared to wild type.

(Sunio et al., 1999)

Characteristic hooked-bristle phenotype. Mature multivesicular bodies reduced six-fold.

(Kramer et al., 1998)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

hook¹¹ has lethal | pupal stage phenotype, enhanceable by dor⁴

(Narayanan et al., 2000)

Suppressed by

Statement

Reference

hook¹¹ has abnormal neuroanatomy phenotype, suppressible by dor⁴

(Narayanan et al., 2000)

Enhancer of

Statement

Reference

hook¹¹ is an enhancer of paralytic | heat sensitive phenotype of shi²

(Narayanan et al., 2000)

hook¹¹ is an enhancer of lethal | pupal stage phenotype of dor⁴

(Narayanan et al., 2000)

Phenotype Manifest In

Suppressed by

Statement

Reference

hook¹¹ has synapse phenotype, suppressible by dor⁴

(Narayanan et al., 2000)

Additional Comments

Genetic Interactions

Statement

Reference

Less than 5% of dor⁴ hk¹¹ double mutants eclose into adults, with the lethal phase occurring in the late pupal stage. The dor⁴ mutation in dor⁴ hk¹¹ double mutants suppresses the increase in synapse size found in hk¹¹ mutants.

(Narayanan et al., 2000)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

hook¹

(Kramer and Phistry, 1999)

Rescued by

hook¹¹ is rescued by hook^+t7

(Narayanan et al., 2000)

Comments

The increased synapse size observed in hk¹¹ mutants can be rescued by hk^+t7 genomic transgene that rescues all known hk phenotypes.

(Narayanan et al., 2000)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Selected as: a mutation that fails to complement hk¹.

(Kramer and Phistry, 1999)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

hk¹¹

(Shao et al., 2010, Sevrioukov et al., 2005)

hook¹¹

(Lu et al., 2020, Simonsen et al., 2007)

Name Synonyms

hook11

(Bitan et al., 2010)

Secondary FlyBase IDs

References (11)

Report Sections

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