Otop1^mlh
Chemically induced Allele Detail

Summary

• Symbol: Otop1^mlh
• Name: otopetrin 1; mergulhador
• MGI ID: MGI:2655558
• Gene: Otop1 Location: Chr5:38434748-38461560 bp, + strand Genetic Position: Chr5, 20.35 cM
• Alliance: Otop1^mlh page

Mutation origin

• Strain of Origin: BALB/cJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation in the mlh mouse has been identified as a T to A transversion at nucleotide position 1247 in the sixth exon of the gene. This results in a Leu to Gln change at amino acid position 408. (J:82639)
• Inheritance: Recessive

Expression

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 Otop1 Mutation: 38 strains or lines available

References

• Original: J:82639 Hurle B, et al., Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1. Hum Mol Genet. 2003 Apr 1;12(7):777-89
• All: 3 reference(s)