Fa2h^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Fa2h^m1Btlr
• Name: fatty acid 2-hydroxylase; mutation 1, Bruce Beutler
• MGI ID: MGI:6268374
• Synonyms: sparse
• Gene: Fa2h Location: Chr8:112071770-112120453 bp, - strand Genetic Position: Chr8, 57.98 cM
• Alliance: Fa2h^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced T to C transition at base pair 111,355,398 (v38) on chromosome 8, or base pair 38,424 in the GenBank genomic region NC_000074 encoding the Fa2h gene, within the donor splice site of intron 4. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 107-base pair exon 4 (out of 7 total exons), resulting in a frame-shift after amino acid 168 of the encoded protein, and premature termination after the inclusion of 0 aberrant amino acids. (J:267484)
• Inheritance: Dominant

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 Fa2h Mutation: 24 strains or lines available

References

• Original: J:267484 SoRelle J, et al., Mutagenetix entry for sparse. MGI Direct Data Submission. 2018
• All: 1 reference(s)