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Btdtm1Bwol
Targeted Allele Detail
Nomenclature
Symbol: Btdtm1Bwol
Name: biotinidase; targeted mutation 1, Barry Wolf
MGI ID: MGI:4888510
Gene: Btd  Location: Chr14:31641028-31668579 bp, + strand  Genetic Position: Chr14, 19.36 cM, cytoband B
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:168391
Parent Cell Line:  D2 (ES Cell)
Strain of Origin:  (129S6/SvEvTac x C57BL/6J)F1
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 2 and 3 were replaced with a neo cassette. The absence of protein expression was confirmed by western blot analysis of serum. (J:168391)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structures
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 Btd Mutation:  24 strains or lines available
References
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:  3 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
07/10/2018
MGI 6.12
The Jackson Laboratory