ENU-induced G to A transition at base pair 95,721,132 (v38) on chromosome 9, or base pair 29,256 in the GenBank genomic region NC_000075 within the donor splice site of intron 7. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in skipping of the 337-nucleotide exon 7 (out of 13 total exons), resulting in a frame-shifted protein product beginning after amino acid 336 of the protein and premature termination after the inclusion of one aberrant amino acid. (J:272098)

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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