| Primary Identifier | MGI:3512923 | Allele Type | Chemically induced (ENU) |
| Attribute String | Not Specified | Gene | Dnah1 |
| Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | 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. |
