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| Nomenclature |
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Symbol:
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Sprtm1Spo
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Name:
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sepiapterin reductase;
targeted mutation 1, S Paul Oh
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MGI ID: |
MGI:3757641 |
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Synonyms: |
Spr- |
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Gene:
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Spr
Location:
Chr6:85133678-85137766 bp, - strand
Genetic Position: Chr6,
37.15 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:124817
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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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: A portion of exon 1, intron 1 and all of exon 2 were replaced with a PGK-neo cassette. The absence of full length transcript was confirmed by northern blot. Exon 2 encodes a short chain dehydrogenase/reductase domain that is essential for Spr function and its deletion and resulting frameshift is expected to produce a null allele. (J:124817)
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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 Spr Mutation:
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1 strain or line available |
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| References |
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Original: |
J:124817
Yang S et al.,
"A murine model for human sepiapterin-reductase deficiency."
Am J Hum Genet 2006 Apr;78(4):575-87
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All: |
1 reference(s)
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Analysis Tools
