Spef2^bgh
Chemically induced Allele Detail

Summary

• Symbol: Spef2^bgh
• Name: sperm flagellar 2; big giant head
• MGI ID: MGI:5295267
• Gene: Spef2 Location: Chr15:9578279-9748954 bp, - strand Genetic Position: Chr15, 4.24 cM
• Alliance: Spef2^bgh page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: ENU induced a missense mutation in exon 3 that results in the amino acid substitution of lysine for glutamine in the DUF domain. An additional nonsense mutation in exon 28 results in a protein truncation after amino acid 1320. The absence of full-length protein was confirmed by western blot analysis on testis extracts. (J:176695)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Spef2 Mutation: 111 strains or lines available

References

• Original: J:176695 Sironen A, et al., Loss of SPEF2 Function in Mice Results in Spermatogenesis Defects and Primary Ciliary Dyskinesia. Biol Reprod. 2011 Oct;85(4):690-701
• All: 5 reference(s)