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Lpcat1rd11
Spontaneous Allele Detail
Nomenclature
Symbol: Lpcat1rd11
Name: lysophosphatidylcholine acyltransferase 1; retinal degeneration 11
MGI ID: MGI:2388243
Gene: Lpcat1  Location: Chr13:73467231-73516420 bp, + strand  Genetic Position: Chr13, 39.97 cM
Mutation
origin
Strain of Origin:  B6.D2/22Ei
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsThis spontaneous insertion of a single G residue in exon 3 causes a frame shift predicted to encode an abnormal protein sequence after amino acid 140 and a stop codon after residue 178. RT-PCR of retinal RNA shows a 3 fold decrease in expression level and western blotting fails to detect protein product. (J:163743)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 2 assay results
In Structures Affected by this Mutation: 4 anatomical structures
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 Lpcat1 Mutation:  10 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Retinal Degeneration J:229509 .
References
Original:  J:163743 Friedman JS, et al., Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice. Proc Natl Acad Sci U S A. 2010 Aug 31;107(35):15523-8
All:  9 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
04/06/2021
MGI 6.16
The Jackson Laboratory