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| Nomenclature |
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Symbol:
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PctpR120H
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Name:
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phosphatidylcholine transfer protein;
R120H
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MGI ID: |
MGI:3691424 |
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Gene:
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Pctp
Location:
Chr11:89843979-89864208 bp, - strand
Genetic Position: Chr11,
52.0 cM
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Mutation
origin |
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Mutation
description |
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Allele
Type: |
Spontaneous |
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Mutation: |
Single point mutation |
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A G to A transition in exon 4 resulted in the arginine to histidine substitution at amino acid 120 in NZO, NZB/BINJ and NZW/LacJ strains. This mutation rendered the protein was inactive. (J:114974) |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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| Genotype | Allelic Composition | Genetic Background |
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  ht1
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PctpR120H/Pctp+ |
NZO |
homeostasis/metabolism |
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| References |
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Original: |
J:114974
Pan HJ et al.,
"A polymorphism in New Zealand inbred mouse strains that inactivates phosphatidylcholine transfer protein."
FEBS Lett 2006 Oct 30;580(25):5953-8
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All: |
1 reference(s)
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