Dnah1^ferf1
Chemically induced Allele Detail

Summary

• Symbol: Dnah1^ferf1
• Name: dynein, axonemal, heavy chain 1; fertilization failure 1, JAX Reproductive Mutagenesis Program
• MGI ID: MGI:3512923
• Synonyms: G1-415-19
• Gene: Dnah1 Location: Chr14:30982332-31045853 bp, - strand Genetic Position: Chr14, Syntenic
• Alliance: Dnah1^ferf1 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: 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)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Dnah1 Mutation: 168 strains or lines available

References

• Original: J:92463 JAX Reproductive Mutagenesis Program, Heritable mouse mutants from The Jackson Laboratory Reproductive Genomics Mutagenesis Program. MGI Direct Data Submission. 2004-7
• All: 4 reference(s)