ENU-induced A to G transition at base pair 71,113,640 (v38) on chromosome 11, or base pair 31,334 in the GenBank genomic region NC_000077 within the acceptor splice site of intron 4. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation may result in skipping of the 171-base pair exon 5 (out of 14 total exons). Exon 5 encodes amino acids 669 to 725. (J:265174)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
--

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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