ENU-induced C to A transversion at base pair 52,153,923 (v38) on chromosome 1, or base pair 34,486 in the GenBank genomic region NC_000067. The mutation corresponds to residue 2,270 in the mRNA sequence NM_001205313 within exon 22 of 25 total exons. The mutation results in substitution of tyrosine 651 for a premature stop codon (Y651*) in the protein. (J:254835)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
8
--

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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