ENU-induced T to A transversion at base pair 141,395,158 (v38) on chromosome 4, or base pair 3,549 in the GenBank genomic region NC_000070 encoding Clcnka. The mutation corresponds to residue 592 in the mRNA sequence NM_024412 within exon 6 of 20 total exons. The mutation results in substitution of tyrosine 179 for a premature stop codon (Y179*). (J:271974)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Translocation
Recessive
1
7
--

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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