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Herc2jdf2-3R
Chemically induced Allele Detail
Summary
Symbol: Herc2jdf2-3R
Name: HECT and RLD domain containing E3 ubiquitin protein ligase 2; juvenile development and fertility 2, 3 Oak Ridge
MGI ID: MGI:1856616
Synonyms: Herc23R, Herc2jdf2-932SJ
Gene: Herc2  Location: Chr7:55699944-55881548 bp, + strand  Genetic Position: Chr7, 33.42 cM
Alliance: Herc2jdf2-3R page
Mutation
origin
Strain of Origin:  BJR
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA single T to G transversion in a conserved splice donor site results in the skipping of an 159-bp exon and an inframe deletion of 53 amino acids. (J:53404)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 8 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 p6H, 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)

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
04/23/2024
MGI 6.23
The Jackson Laboratory