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Leprtm1.1Rll
Targeted Allele Detail
Summary
Symbol: Leprtm1.1Rll
Name: leptin receptor; targeted mutation 1.1, Rudolph L Leibel
MGI ID: MGI:5049781
Synonyms: Lepr223R, LeprR
Gene: Lepr  Location: Chr4:101574601-101672549 bp, + strand  Genetic Position: Chr4, 46.96 cM
Alliance: Leprtm1.1Rll page
Increased susceptibility to E. histolytica infection in Leprtm1.1Rll/Leprtm1.1Rll mice

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

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:173593
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129P3/J
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 4 was replaced with a modified exon 4 in which nucleotide substitutions (CAG to CGA) result in the amino acid substitution of arginine for glutamine at position 223 (Q223R). This mutation humanizes the protein. An floxed neo cassette inserted downstream of the modified exon was removed by cre-mediated recombination. (J:173593)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  122 strains or lines available
References
Original:  J:173593 Stratigopoulos G, et al., Functional consequences of the human leptin receptor (LEPR) Q223R transversion. Obesity (Silver Spring). 2009 Jan;17(1):126-35
All:  4 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)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory