Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Cyp27a1tm1Elt
Name:	cytochrome P450, family 27, subfamily a, polypeptide 1; targeted mutation 1, Eran Leitersdorf
MGI ID:	MGI:2181406
Synonyms:	cyp27-, Cyp27 -, Cyp27a1-
Gene:	Cyp27a1  Location: Chr1:74752733-74777051 bp, + strand  Genetic Position: Chr1, 38.54 cM, cytoband C3
Alliance:	Cyp27a1tm1Elt page

Germline Transmission:	Earliest citation of germline transmission: J:48127
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129/Sv

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A 71 bp fragment of exon 8 was deleted and replaced with a neomycin resistance gene via homologous recombination. The mutant allele was verified by Northern blot analysis of liver extracts from homozygous mutant mice. Western blot analysis of total liver mitochondrial protein from homozygous mutants confirmed the absence of protein product. (J:48127)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Cyp27a1 Mutation:	29 strains or lines available

Original:	J:48127 Rosen H, et al., Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene. J Biol Chem. 1998 Jun 12;273(24):14805-12
All:	33 reference(s)