Scamp5^tm1Smoc
Targeted Allele Detail

Summary

• Symbol: Scamp5^tm1Smoc
• Name: secretory carrier membrane protein 5; targeted mutation 1, Shanghai Model Organisms Center
• MGI ID: MGI:6441508
• Synonyms: SCAMP5 R91W
• Gene: Scamp5 Location: Chr9:57348610-57375343 bp, - strand Genetic Position: Chr9, 31.05 cM
• Alliance: Scamp5^tm1Smoc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:288324
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: An arginine to tryptophan substitution at amino acid 91 (p.R91W) was introduced via homologous recombination. This mutation was identified in a Chinese consanguineous family with pediatric epilepsy and juvenile Parkinsons disease. (J:288324)

Disease models

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 Scamp5 Mutation: 66 strains or lines available

References

• Original: J:288324 Zhang D, et al., Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain. Hum Genet. 2020 Apr;139(4):545-555
• All: 1 reference(s)