Lep^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Lep^m2Btlr
• Name: leptin; mutation 2, Bruce Beutler
• MGI ID: MGI:5789539
• Synonyms: potbelly2
• Gene: Lep Location: Chr6:29060220-29073875 bp, + strand Genetic Position: Chr6, 12.3 cM
• Alliance: Lep^m2Btlr 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 C to A transversion at base pair 29,069,090 (v38) on chromosome 6, or base pair 10,628 in the GenBank genomic region NC_000072 encoding Lep. The mutation corresponds to residue 198 in the mRNA sequence NM_008493 in exon 2 of 3 total exons. The mutation results in a histidine (H) to asparagine (N) substitution at position 47 (H47N) in the leptin protein. (J:234238)
• 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 Lep Mutation: 21 strains or lines available

References

• Original: J:234238 Turer E, et al., Mutagenetix entry for potbelly2. MGI Direct Data Submission. 2016
• All: 1 reference(s)