Overview

This spontaneous mutation is valuable for the study of photoreceptor and retinal degeneration, particularly the role of specific fatty acids in this process, as well as other biological processes involving fatty acid regulation by Lpcat1.

Genetic overview

Genetic Background	Generation
	N5F22 (2020-04-23 00:00:00)

Lpcat1^rd11

Allele Type	Gene Symbol	Gene Name
Spontaneous	Lpcat1	lysophosphatidylcholine acyltransferase 1

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Research Applications

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Base Price

Starting at:

$277.98 Domestic price for female

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Details

Detailed Description

In Lpcat1^rd11 homozygotes photoreceptors develop normally, but degenerate quickly after 21 days of age, with less than half the normal number of rows of photoreceptor nuclei remaining by 31 days of age, and even fewer at 47 days of age. By 36 days of age retinal vessels are attenuated and by 113 days of age there is clear retinal degeneration. Dark-adapted electroretinography shows a reduced rod photoreceptor a-wave at 3 weeks of age, which is flattened by 4 weeks of age. Cone photoreceptor response is normal at 3 weeks of age but substantially reduced at 4 and 5 weeks of age. Lipid extracts from retina analyzed by HPLC and mass spectrometry show that the ratio of dipalmitoylphosphatidylcholine (DPPC) to the peak lipid class is decreased from 84% in C57BL/6J to 38% in Lpcat1^rd11 homozygotes. Distinctly lower levels of platelet activating factor C16 and lyso-platelet activating factor C16 were found in retinas of homozygotes compared with C57BL/6J. Administration of DPPC in the chow did not prevent retinal degeneration. The Lpcat1^rd11 allele seems slightly more severe than the Lpcat1^rd11-2J allele.

Selected References

Friedman JS; Chang B; Krauth DS; Lopez I; Waseem NH; Hurd RE; Feathers KL; Branham KE; Shaw M; Thomas GE; Brooks MJ; Liu C; Bakeri HA; Campos MM; Maubaret C; Webster AR; Rodriguez IR; Thompson DA; Bhattacharya SS; Koenekoop RK; Heckenlively JR; Swaroop A. 2010. Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice. Proc Natl Acad Sci U S A 107(35):15523-8PubMed: 20713727 MGI: J:163743

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Genetics

Lpcat1^rd11

Allele Symbol: Lpcat1^rd11

Allele Name	retinal degeneration 11
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	Lpcat1, lysophosphatidylcholine acyltransferase 1
Gene Synonym(s)
Strain of Origin	B6.D2/22Ei
Chromosome	13
General Note	Phenotypic Similarity to Human Syndrome: Retinal Degeneration J:229509 .
Molecular Note	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.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Lpcat1^rd11/Lpcat1^rd11
B6.Cg-Lpcat1/Boc

cardiovascular system phenotype

abnormal retinal vasculature morphology
- fundus examination reveals attenuated retinal vessels by 36 days of age

homeostasis/metabolism phenotype

abnormal phospholipid level
- decreased retinal dipalmitoylphospatidylcholine, platelet activating factor C16 and lyso-platelet activating factor C16

nervous system phenotype

absent photoreceptor outer segment

retinal cone cell degeneration

retinal photoreceptor degeneration
- although histologically normal at 3 weeks of age, there is rapid photoreceptor degeneration thereafter such that by 31 days of age the number of rows of photoreceptor nuclei is diminished from 10-12 to 4-5 and at 47 days of age only one row of nuclei remain
- in
- transmission electron microscopy of retinas at 21 days of age shows that photoreceptor nuclei are less ordered than in C57BL/6J controls

retinal rod cell degeneration

vision/eye phenotype

abnormal cone electrophysiology

abnormal electroretinogram waveform feature
- both scotopic and photopic ERG responses are nearly absent

abnormal eye electrophysiology
- electroretinograms are nondetectable at 2 months of age
- electroretinograms show a reduced dark-adapted alpha wave which flattens out at 4 weeks of age, and a light-adapted response that is normal at 3 weeks of age but significantly reduced by 4 and 5 weeks of age

abnormal ocular fundus morphology

abnormal retinal vasculature morphology
- fundus examination reveals attenuated retinal vessels by 36 days of age

abnormal rod electrophysiology

abnormal vision
- mice show increased latency time to escape to the platform under room light conditions and under very dim light conditions in the water maze visually-guided behavioral test

absent photoreceptor outer segment

decreased b wave amplitude
- scotopic and photopic b-wave amplitudes are nearly absent

decreased total retina thickness

retinal cone cell degeneration

retinal degeneration
- histologically evident at 3 weeks of age and at 4 weeks of age there are white retinal vessels
- retinal degeneration by 113 days of age
- treatment with gene replacement therapy (fast-acting tyrosine-capsid mutant AAV8) rescues retinal degeneration

retinal photoreceptor degeneration
- although histologically normal at 3 weeks of age, there is rapid photoreceptor degeneration thereafter such that by 31 days of age the number of rows of photoreceptor nuclei is diminished from 10-12 to 4-5 and at 47 days of age only one row of nuclei remain
- in
- transmission electron microscopy of retinas at 21 days of age shows that photoreceptor nuclei are less ordered than in C57BL/6J controls

retinal rod cell degeneration

thin retinal outer nuclear layer
- outer nuclear layer is nearly absent, with only one incomplete layer of nuclei in the outer nuclear layer

thin retinal outer plexiform layer

References

Friedman JS; Chang B; Krauth DS; Lopez I; Waseem NH; Hurd RE; Feathers KL; Branham KE; Shaw M; Thomas GE; Brooks MJ; Liu C; Bakeri HA; Campos MM; Maubaret C; Webster AR; Rodriguez IR; Thompson DA; Bhattacharya SS; Koenekoop RK; Heckenlively JR; Swaroop A. 2010. Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice. Proc Natl Acad Sci U S A 107(35):15523-8PubMed: 20713727 MGI: J:163743

Additional References

Chang B; Hawes NL; Hurd RE; Wang J; Howell D; Davisson MT; Roderick TH; Nusinowitz S; Heckenlively JR. 2005. Mouse models of ocular diseases. Vis Neurosci 22(5):587-93PubMed: 16332269 MGI: J:156373
Hawes NL; Chang B; Hurd RE; Nusinowitz JR; Heckenlively JR; Davisson MT. 2002. A new mouse model of retinal degeneration (rd11) Invest Ophthalmol Vis Sci 43(13):3669MGI: J:163976

Additional - Lpcat1^rd11 related

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Genotyping Protocols
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Citation
When using the B6.Cg-Lpcat1^rd11/Boc mouse strain in a publication, please cite the originating article(s) and include JAX stock #006947 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

MGL277 (Low)

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Genetic overview

Research Applications

Base Price

Detailed Description

Selected References

Lpcat1rd11

Allele Symbol: Lpcat1rd11

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Mammalian Phenotype Terms by Genotype

Genotype: Lpcat1rd11/Lpcat1rd11B6.Cg-Lpcat1/Boc

cardiovascular system phenotype

homeostasis/metabolism phenotype

nervous system phenotype

vision/eye phenotype

References

Additional References

Additional - Lpcat1rd11 related

Genotyping Protocols

Citation

Animal Health Reports

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Lpcat1^rd11

Allele Symbol: Lpcat1^rd11

Genotype: Lpcat1^rd11/Lpcat1^rd11
B6.Cg-Lpcat1/Boc

Additional - Lpcat1^rd11 related