Lpcat1^rd11-2J
Spontaneous Allele Detail

Summary

• Symbol: Lpcat1^rd11-2J
• 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: Lpcat1^rd11-2J page

Mutation origin

• Strain of Origin: C.B-H2^b Tg(H2-D^d)D8Gja/LilJ

Mutation description

• 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

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	2 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 Lpcat1 Mutation: 36 strains or lines available

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: 3 reference(s)