Lepr^db
Spontaneous Allele Detail

Summary

• Symbol: Lepr^db
• Name: leptin receptor; diabetes
• MGI ID: MGI:1856009
• Synonyms: db, db/db, Lep^db, Lepr-, leprdb, Lepr^db-1J
• Gene: Lepr Location: Chr4:101574601-101672549 bp, + strand Genetic Position: Chr4, 46.96 cM
• Alliance: Lepr^db page

Increased beta cell mass in Lepr^db/Lepr^db mice and Lepr^db/Lepr^db Cebpb^tm1.1Maka/Cebpb^tm1.1Maka 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 details: An 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

Disease models

Expression

In Mice Carrying this Mutation:	122 assay results 25 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	35 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Lepr^db

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 17 strains available Cell Lines: 0 lines available
• Carrying any Lepr Mutation: 121 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: 1990 reference(s)