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| Nomenclature |
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Symbol:
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Slc34a1tm1Hten
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Name:
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solute carrier family 34 (sodium phosphate), member 1;
targeted mutation 1, Harriet S Tenenhouse
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MGI ID: |
MGI:2386786 |
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Synonyms: |
NaPi2a-, Npt2-, Npt2a KO |
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Gene:
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Slc34a1
Location:
Chr13:55399648-55414695 bp, + strand
Genetic Position: Chr13,
29.81 cM, cytoband B
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Histological appearance of bone from wild-type, Slc34a1tm1Hten/Slc34a1+ and Slc34a1tm1Hten/Slc34a1tm1Hten mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:47637
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Parent Cell Line:
| D3 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exons 6 through 10 were replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded amino acids 178 through 389. Northern blot and RT-PCR analyses showed reduced levels of transcript in heterozygous mice and and an absence of transcript in homozygous mutant mice. While protein was undetected in homozygous mutant mice by Western blot analysis of renal tissue, normal levels of protein were detected in heterozygotes. (J:47637)
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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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| References |
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Original: |
J:47637
Beck L et al.,
"Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities."
Proc Natl Acad Sci U S A 1998 Apr 28;95(9):5372-7
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All: |
19 reference(s)
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Analysis Tools
