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Spef2bgh
Chemically induced Allele Detail
Nomenclature
Symbol: Spef2bgh
Name: sperm flagellar 2; big giant head
MGI ID: MGI:5295267
Gene: Spef2  Location: Chr15:9578193-9748868 bp, - strand  Genetic Position: Chr15, 4.24 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Null/knockout)
Mutation:    Nucleotide substitutions
 
Mutation detailsENU 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
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:  59 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:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory