Lpcat1^rd11
Spontaneous Allele Detail

Summary

• Symbol: Lpcat1^rd11
• Name: lysophosphatidylcholine acyltransferase 1; retinal degeneration 11
• MGI ID: MGI:2388243
• Gene: Lpcat1 Location: Chr13:73615332-73664539 bp, + strand Genetic Position: Chr13, 39.97 cM
• Alliance: Lpcat1^rd11 page

Mutation origin

• Strain of Origin: B6.D2/22Ei

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: This 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

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	5 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: 34 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)