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| Nomenclature |
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Symbol:
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Cyp27b1tm1Dgo
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Name:
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cytochrome P450, family 27, subfamily b, polypeptide 1;
targeted mutation 1, David Goltzman
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MGI ID: |
MGI:2182323 |
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Synonyms: |
1alpha(OH)ase- |
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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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Bone histology of Cyp27b1tm1Dgo/Cyp27b1tm1Dgo mice
Show the 2 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:70030
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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: Exons 6 through 8, encoding the hormone and heme binding domains, were replaced with a neomycin selection cassette. RT-PCR analysis of total renal RNA showed an absence of transcript in homozygous mutant mice. (J:70030)
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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:70030
Panda DK et al.,
"Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction."
Proc Natl Acad Sci U S A 2001 Jun 19;98(13):7498-503
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All: |
13 reference(s)
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