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Targeted Allele Detail
Symbol: Sprtm1Spo
Name: sepiapterin reductase; targeted mutation 1, S Paul Oh
MGI ID: MGI:3757641
Synonyms: Spr-
Gene: Spr  Location: Chr6:85133678-85137766 bp, - strand  Genetic Position: Chr6, 37.15 cM
Germline Transmission:  Earliest citation of germline transmission: J:124817
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
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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 Spr Mutation:  1 strain or line available
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
All:  2 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
MGI 6.01
The Jackson Laboratory