Lepr^m7Btlr
Chemically induced Allele Detail

Summary

• Symbol: Lepr^m7Btlr
• Name: leptin receptor; mutation 7, Bruce Beutler
• MGI ID: MGI:5806340
• Synonyms: giant
• Gene: Lepr Location: Chr4:101574601-101672549 bp, + strand Genetic Position: Chr4, 46.96 cM
• Alliance: Lepr^m7Btlr 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 G to A transition at base pair 101,765,152 (v38) on chromosome 4, or base pair 48,019 in the GenBank genomic region NC_000070 within the donor splice site on intron 8 of the gene. 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 291-nucleotide exon 8 (out of 19 total exons), resulting in an in-frame deletion of 97 amino acids beginning after amino acid 329 of the encoded protein. (J:236685)
• 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 Lepr Mutation: 123 strains or lines available

References

• Original: J:236685 Choi JH, et al., Mutagenetix entry for giant. MGI Direct Data Submission. 2016
• All: 1 reference(s)