Loxhd1^sba
Chemically induced Allele Detail

Summary

• Symbol: Loxhd1^sba
• Name: lipoxygenase homology domains 1; samba
• MGI ID: MGI:3708447
• Gene: Loxhd1 Location: Chr18:77369654-77530626 bp, + strand Genetic Position: Chr18, 52.2 cM
• Alliance: Loxhd1^sba page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis indced a T to a transversion at position 4025 (c.4025T>A, GenBank FJ50876) resulting in an amino acid substitution of asparagine for isoleucine at position 1342 (p.I1342N). This mutation is predicted to destabilize the beta sandwich structure of the protein. (J:154318)
• 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 Loxhd1 Mutation: 104 strains or lines available

References

• Original: J:119820 Schwander M, et al., A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci. 2007 Feb 28;27(9):2163-75
• All: 4 reference(s)