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

Symbol:	Btdtm1Bwol
Name:	biotinidase; targeted mutation 1, Barry Wolf
MGI ID:	MGI:4888510
Gene:	Btd  Location: Chr14:31363014-31390154 bp, + strand  Genetic Position: Chr14, 19.36 cM, cytoband B
Alliance:	Btdtm1Bwol page

Germline Transmission:	Earliest citation of germline transmission: J:168391
Parent Cell Line:	D2 (ES Cell)
Strain of Origin:	(129S6/SvEvTac x C57BL/6J)F1

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exons 2 and 3 were replaced with a neo cassette. The absence of protein expression was confirmed by western blot analysis of serum. (J:168391)

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

In Structures Affected by this Mutation:

8 anatomical structure(s)

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 Btd Mutation:	37 strains or lines available

Original:	J:168391 Pindolia K, et al., Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. Mol Genet Metab. 2011 Feb;102(2):161-9
All:	4 reference(s)