Cyp27b1^tm1Dgo
Targeted Allele Detail

Summary

• Symbol: Cyp27b1^tm1Dgo
• Name: cytochrome P450, family 27, subfamily b, polypeptide 1; targeted mutation 1, David Goltzman
• MGI ID: MGI:2182323
• Synonyms: 1alpha(OH)ase-
• Gene: Cyp27b1 Location: Chr10:126884119-126888875 bp, + strand Genetic Position: Chr10, 74.5 cM
• Alliance: Cyp27b1^tm1Dgo page

Bone histology of Cyp27b1^tm1Dgo/Cyp27b1^tm1Dgo mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:70030
• 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: 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)

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Cyp27b1 Mutation: 33 strains or lines available

References

• 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
• All: 26 reference(s)