This phenotypic mutant was identified in an ENU mutagenesis screen. Targeted exome sequencing and SNP analyses identified a single coding mutation, a T to C mutation located in exon 73 of the Dnah1 gene, resulting in a tyrosine to histidine change at amino acid 3897 (Y3897H). GRCm39 has the T to C mutation resulting in the Y to H substitution at amino acid 3898 (p.Y3898H). The mutation site was further confirmed by genomic PCR and RT-PCR followed by sequencing. This mutation does not result in failure to produce DNAH1 protein or its degradation. (J:308831)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
3

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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