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| Nomenclature |
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Symbol:
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Pitpnatm1Vab
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Name:
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phosphatidylinositol transfer protein, alpha;
targeted mutation 1, Vytas A Bankaitis
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MGI ID: |
MGI:2676298 |
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Synonyms: |
PITPalpha-, PITPalphadelta1::neo*, PITPalphadelta::neo* |
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Gene:
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Pitpna
Location:
Chr11:75588097-75628804 bp, + strand
Genetic Position: Chr11,
45.92 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:85204
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Disruption caused by insertion of vector |
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Mutation details: Exons 8, 9, and 10 were replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encoded residues 162 through 257 and has been shown to be essential for catalytic activity. Protein was undetected by Western blot analyses of homozygous mutant ES cells and mice. (J:85733)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Pitpna Mutation:
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50 strains or lines available |
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| References |
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Original: |
J:85204
Alb JG Jr et al.,
"Mice lacking phosphatidylinositol transfer protein-alpha exhibit spinocerebellar degeneration, intestinal and hepatic steatosis, and hypoglycemia."
J Biol Chem 2003 Aug 29;278(35):33501-18
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All: |
6 reference(s)
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Analysis Tools
