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)

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)