ENU-induced A to G transition at base pair 11,226,986 (v38) on chromosome 2, or base pair 55,083 in the GenBank genomic region NC_000068 within the donor splice site of intron 2 (Transcript_ID = ENSMUST00000028118.8). The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of a cryptic site in exon 1 (out of 16 total exons; Transcript_ID = ENSMUST00000102970.4). Use of the cryptic site in exon 1 would result in a 14-base pair deletion in exon 1 and a frame-shifted protein product beginning after amino acid 34 and terminating after the inclusion of 20 aberrant amino acids. (J:255216)

Basic Information

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