About   Help   FAQ
Leprdb
Spontaneous Allele Detail
Nomenclature
Symbol: Leprdb
Name: leptin receptor; diabetes
MGI ID: MGI:1856009
Synonyms: db, db/db, Lepdb, Lepr-, leprdb, Leprdb-1J
Gene: Lepr  Location: Chr4:101574601-101672549 bp, + strand  Genetic Position: Chr4, 46.96 cM
Increased beta cell mass in Leprdb/Leprdb mice and Leprdb/Leprdb Cebpbtm1.1Maka/Cebpbtm1.1Maka Tg(Ins2-cre)23Herr/0 mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BLKS/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsAn intronic G-to-T transversion in this allele created a donor splice site that causes abnormal splicing and the inclusion of 106 nt of intronic sequence in the transcript, leading to premature termination of the long cellular domain of the Ob-Rb splice form and loss of its signal transducing function. (J:31324, J:31327, J:31488)
Inheritance:    Recessive
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Mice Carrying this Mutation: 122 assay results
In Structures Affected by this Mutation: 35 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 15 strains available      Cell Lines: 0 lines available
Carrying any Lepr Mutation:  90 strains or lines available
Notes

Phenotypic Similarity to Human Syndrome: Gestational Diabetes J:219658

References
Original:  J:5010 Hummel KP, et al., Diabetes, a new mutation in the mouse. Science. 1966 Sep 2;153(740):1127-8
All:  1681 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/23/2021
MGI 6.17
The Jackson Laboratory