Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Lpcat1rd11-2J
Name:	lysophosphatidylcholine acyltransferase 1; retinal degeneration 11, 2 Jackson
MGI ID:	MGI:4830270
Synonyms:	B6-JR2845, Nm3344
Gene:	Lpcat1  Location: Chr13:73615332-73664539 bp, + strand  Genetic Position: Chr13, 39.97 cM
Alliance:	Lpcat1rd11-2J page

Strain of Origin:

C.B-H2b Tg(H2-Dd)D8Gja/LilJ

Allele Type:    Spontaneous Mutation:    Intragenic deletion   Mutation details: This is a spontaneous deletion of 7 nucleotodes in exon 1 in a GC rich region which is predicted to result in a frameshift after codon 8 and a stop codon after 21. RT-PCR of retinal RNA reveals a 2.5 fold increase in transcript, but western blotting failed to detect protein product. (J:163743) Inheritance:    Recessive

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

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	2 anatomical structure(s)

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:	34 strains or lines available

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:	3 reference(s)