FlyBase Allele Report: Dmel\knk[1]

General Information

Symbol

Dmel\knk¹

Species

D. melanogaster

Name

FlyBase ID

FBal0005783

Feature type

allele

Associated gene

Dmel\knk

Associated Insertion(s)

Carried in Construct

Also Known As

knk^5C77

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Ostrowski et al., 2002)

Mutagen

ethyl methanesulfonate

Progenitor genotype

Cytology

Description

Amino acid replacement: W299term.

(Ostrowski et al., 2002)

Nucleotide substitution: G?A.

(Ostrowski et al., 2002)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:10,123,814..10,123,814 [-]

Nucleotide change:

G10123814A

Reported nucleotide change:

G?A

Amino acid change:

W299term | knk-PA

Reported amino acid change:

W299term

Comment:

G to A nucleotide change at the second or third position of the Trp codon leads to a nonsense mutation (exact site of mutation unspecified)

(Ostrowski et al., 2002)

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 - all die during embryonic stage | recessive

some die during embryonic stage | recessive

Phenotype Manifest In

Detailed Description

Statement

Reference

knk²/knk¹ larvae exhibit a dilated cuticle with a strongly deformed and melanised head skeleton and pharynx, as the vertical bridge is strongly melanised and appears granular instead of fibrous as in the wild-type. knk¹ mutant larval cuticles reveal a defected epicuticle and procuticle, but a normal envelope. The knk¹ mutant procuticle is not clearly separable from the upper epicuticle and is also devoid of chitin lamellar texture.

(Moussian et al., 2006)

Homozygous embryos often reverse themselves within the eggshell (2.4% of embryos show this "retroactive" phenotype). When the embryos are mechanically devitellinised the resulting cuticle preparations stretch to a much greater extent than wild-type cuticles, resulting in inflated cuticles ("blimp" phenotype). The embryos have defects in the head skeleton and denticle belts.

(Ostrowski et al., 2002)

Enhancement of tor^13D embryos: decrease in proportion of embryos that formed cuticle, or cuticle with denticles and increase in proportion of embryos that formed empty sacs.

(Strecker et al., 1991)

Head skeleton defective; denticle bands narrower; embryo rarely inverted in egg case.

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Other

Statement

Reference

knk¹, shg¹ has embryonic/first instar larval cuticle phenotype