Lrat<tm1Kpal> Targeted Allele Detail MGI Mouse (MGI:3038935)

Lrat^tm1Kpal
Targeted Allele Detail

Summary

Symbol:	Lrat^tm1Kpal
Name:	lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase); targeted mutation 1, Krzysztof Palczewski
MGI ID:	MGI:3038935
Synonyms:	Lrat^-
Gene:	Lrat Location: Chr3:82799889-82811281 bp, - strand Genetic Position: Chr3, 36.81 cM
Alliance:	Lrat^tm1Kpal page

Severe retinal degeneration in Rho^tm2.1Kpal/Rho^tm2.1Kpal Gnat1^tm1Clma/Gnat1^tm1Clma mice and less severe degeneration in Rho^tm2.1Kpal/Rho^tm2.1Kpal Lrat^tm1Kpal/Lrat^tm1Kpal mice

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

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:88871
Parent Cell Line:	TL1/TL-1 (ES Cell)
Strain of Origin:	129S6/SvEvTac

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutations:		Insertion, Intragenic deletion
		Mutation details: Part of exon 1, including ATG, was replaced by a neo cassette via homologous recombination. Protein expression was abolished in the eye of homozygous mutant mice as shown by immunocytochemistry. Western blot shows no protein in homozygous mutants. (J:88871)

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	7 assay results 2 RNA-Seq or microarray experiment(s)
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: 1 strain available Cell Lines: 0 lines available
Carrying any Lrat Mutation:	26 strains or lines available

References

Original:	J:88871 Batten ML, et al., Lecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver. J Biol Chem. 2004 Mar 12;279(11):10422-32
All:	52 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, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24