Ostm1^om
Spontaneous Allele Detail

Summary

• Symbol: Ostm1^om
• Name: osteopetrosis associated transmembrane protein 1; omi
• MGI ID: MGI:5512861
• Gene: Ostm1 Location: Chr10:42554912-42578458 bp, + strand Genetic Position: Chr10, 22.89 cM
• Alliance: Ostm1^om page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Undefined
• Mutation details: The omi mutation was discovered because of high post-weaning lethality observed only after five generations of backcrossing to the original inbred strain in a line of mice bearing an unrelated, dominant ENU-induced mutation. It was mapped to a ~12 Mb region of Chr 10 containing ~100 genes including Ostm1, mutations of which are associated with a similar constellation of phenotypes in mice and humans. Crosses of omi and Ostm1^gl mice demonstrated failure of the two mutations to complement each other. No causative lesion was identified by sequence analysis of the Ostm1 coding sequence, 5' and 3' UTRs and ~500 bp of upstream DNA. Immunoblot analysis of brain homogenates using an anti-OSTM1 antibody revealed levels of the major protein isoform in homozygous omi mice to be lower than in omi heterozygotes, but higher than in Ostm1^gl homozygotes, consistent with the more severe phenotype of the latter. (J:195249)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

13 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 Ostm1 Mutation: 23 strains or lines available

References

• Original: J:195249 Bosman EA, et al., Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1. Mamm Genome. 2013 Feb;24(1-2):44-53
• All: 1 reference(s)