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| Nomenclature |
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Symbol:
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Btdtm1Bwol
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Name:
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biotinidase;
targeted mutation 1, Barry Wolf
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MGI ID: |
MGI:4888510 |
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Gene:
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Btd
Location:
Chr14:31641028-31668579 bp, + strand
Genetic Position: Chr14,
19.36 cM, cytoband B
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:168391
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Parent Cell Line:
| Other (see notes) (ES Cell) |
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Strain of Origin:
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(129S6/SvEvTac x C57BL/6J)F1
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Btd Mutation:
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12 strains or lines available |
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Notes |
ES cell line = D2 (129S6/SvEvTac x C57BL/6J)F1
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
