Herc2^jdf2-1R
Chemically induced Allele Detail

Summary

• Symbol: Herc2^jdf2-1R
• Name: HECT and RLD domain containing E3 ubiquitin protein ligase 2; juvenile development and fertility 2, 1 Oak Ridge
• MGI ID: MGI:1857686
• Synonyms: Herc2^1R, Herc2^jdf2-322SJ
• Gene: Herc2 Location: Chr7:55699944-55881548 bp, + strand Genetic Position: Chr7, 33.42 cM
• Alliance: Herc2^jdf2-1R page

Mutation origin

• Strain of Origin: BJR

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A single A to T transversion in a splice acceptor site of an 84-bp exon results in the use of a cryptic splice site located 7-bp into the exon and generates a 7-bp deletion with a premature truncation or skips the entire exon and creates an 84-bp internal deletion removing 28 amino acids. (J:53404)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	1 assay results
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 Herc2 Mutation: 214 strains or lines available

Notes

Homozygotes are runted, act nervous, and usually die before 4 weeks of age. Hemizygous males have sperm defects similar to p^6H, namely: multiple acrosomal vesicles and nuclei conjoined by a single acrosome. Heterozygote males are fertile with morphologically normal spermatogenesis (J:26849).

References

• Original: J:26849 Rinchik EM, et al., Pleiotropy in microdeletion syndromes: neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene. Proc Natl Acad Sci U S A. 1995 Jul 3;92(14):6394-8
• All: 3 reference(s)