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| Nomenclature |
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Symbol:
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Cyp27b1tm1Star
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Name:
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cytochrome P450, family 27, subfamily b, polypeptide 1;
targeted mutation 1, Rene St-Arnaud
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MGI ID: |
MGI:2182334 |
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Synonyms: |
1alpha-(OH)ase-, 1alpha-OHase-, 1alpha(OH)ase-, Cyp27b1 KO, OHase- |
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Gene:
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Cyp27b1
Location:
Chr10:127048250-127053006 bp, + strand
Genetic Position: Chr10,
74.5 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:71928
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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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: A floxed region containing exon 8 was excised via the expression of cre recombinase in vitro. The deleted region encoded the heme-binding domain. RT-PCR analysis of total renal RNA identified the presence of a truncated transcript in homozygous mutant mice. The absence of active vitamin D3 in serum samples was identified by an radioimmunoassay and indicates that the aberrant transcript present in homozgous mutant mice is non-functional. (J:71928)
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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 Cyp27b1 Mutation:
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1 strain or line available |
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| References |
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Original: |
J:71928
Dardenne O et al.,
"Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets."
Endocrinology 2001 Jul;142(7):3135-41
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All: |
24 reference(s)
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Analysis Tools
