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Targeted Allele Detail
Symbol: Cyp27b1tm1Star
Name: cytochrome P450, family 27, subfamily b, polypeptide 1; targeted mutation 1, Rene St-Arnaud
MGI ID: MGI:2182334
Synonyms: 1alpha-(OH)ase-, 1alpha-OHase-, 1alpha(OH)ase-, Cyp27b1 KO, OHase-
Gene: Cyp27b1  Location: Chr10:127048250-127053006 bp, + strand  Genetic Position: Chr10, 74.5 cM
Germline Transmission:  Earliest citation of germline transmission: J:71928
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 6 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cyp27b1 Mutation:  24 strains or lines available
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
All:  30 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.13
The Jackson Laboratory