Spr^tm1Spo
Targeted Allele Detail

Summary

• Symbol: Spr^tm1Spo
• Name: sepiapterin reductase; targeted mutation 1, S Paul Oh
• MGI ID: MGI:3757641
• Synonyms: Spr^-
• Gene: Spr Location: Chr6:85110662-85114746 bp, - strand Genetic Position: Chr6, 37.15 cM
• Alliance: Spr^tm1Spo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:124817
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Spr Mutation: 8 strains or lines available

References

• 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: 4 reference(s)