Nsdhl^Str-2H
Spontaneous Allele Detail

Summary

• Symbol: Nsdhl^Str-2H
• Name: NAD(P) dependent steroid dehydrogenase-like; striated 2 Harwell
• MGI ID: MGI:1857782
• Synonyms: Str^2H
• Gene: Nsdhl Location: ChrX:71962163-72002120 bp, + strand Genetic Position: ChrX, 37.29 cM
• Alliance: Nsdhl^Str-2H page

Mutation origin

• Strain of Origin: 101/H

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: A 3 bp TTA insertion into exon 8 at position 1087. This adds a tyrosine residue into the encoded protein. (J:55488)
• Inheritance: Dominant

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 Nsdhl Mutation: 8 strains or lines available

Notes

Mice carrying this allele display a striped coat at day 12 and occasional white patches after 4 weeks of age. The allele is lethal in males. Affected male embryos die at 11.5-13.5 dpc.

References

• Original: J:55488 Liu XY, et al., The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. Nat Genet. 1999 Jun;22(2):182-7
• All: 2 reference(s)