Primary Identifier | MGI:1857686 | Allele Type | Chemically induced (ENU) |
Gene | Herc2 | Inheritance Mode | Recessive |
Strain of Origin | BJR | Is Recombinase | false |
Is Wild Type | false |
description | 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). |
molecularNote | 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. |