Agps^bs2
Spontaneous Allele Detail

Summary

• Symbol: Agps^bs2
• Name: alkylglycerone phosphate synthase; blind-sterile 2
• MGI ID: MGI:3777322
• Gene: Agps Location: Chr2:75662521-75761694 bp, + strand Genetic Position: Chr2, 44.77 cM
• Alliance: Agps^bs2 page

Mutation origin

• Strain of Origin: C3H/HeOuJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A spontaneous mutation results in the G to A transition in intron 14 (IVS14+5G>A) that results in the production of two truncated transcripts that skip exon 14 or exons 13+14 causing frame shifts and premature stop codons (Glu467fsX474 and Phe441fsX456). (J:171265)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Agps Mutation: 80 strains or lines available

References

• Original: J:156373 Chang B, et al., Mouse models of ocular diseases. Vis Neurosci. 2005 Sep-Oct;22(5):587-93
• All: 3 reference(s)