Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Leprm3Btlr
Name:	leptin receptor; mutation 3, Bruce Beutler
MGI ID:	MGI:3817472
Synonyms:	well-upholstered
Gene:	Lepr  Location: Chr4:101574601-101672549 bp, + strand  Genetic Position: Chr4, 46.96 cM
Alliance:	Leprm3Btlr page

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

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: This mutation, identified by its phenotype among G3 progeny of an ENU mutagenized male mouse, is a G to A transition at nucleotide position 2421 (variant 1; Genbank accession NM_146146), in the 12th of the gene's 18 exons. It results in the replacement of a tryptophan codon at amino acid position 623 by a stop codon (W623Ter), which truncates the receptor by 539 amino acids at its C terminus. (J:140985)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	121 strains or lines available

Original:	J:140985 Siggs OM, et al., Record for "well-upholstered", updated November 13, 2008. MGI Direct Data Submission. 2008;
All:	1 reference(s)