Cyp27b1^tm1Star
Targeted Allele Detail

Summary

• Symbol: Cyp27b1^tm1Star
• 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: Chr10:126884119-126888875 bp, + strand Genetic Position: Chr10, 74.5 cM
• Alliance: Cyp27b1^tm1Star page

Mutation origin

• 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⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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: 33 strains or lines available

References

• 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: 37 reference(s)