ENU-induced C to T transition at base pair 96,176,237(v38) on chromosome 9, or base pair 56,894 in the GenBank genomic region NC_000075. The mutation corresponds to residue 1,292 in the mRNA sequence NM_177352.4 within exon 14 of 17 total exons.The mutation results in substitution of glutamine 424 for a premature stop codon (Q424*) in the GK5 protein. (J:264817)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
--
--

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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