Mocs2^tm1Geno
Targeted Allele Detail

Summary

• Symbol: Mocs2^tm1Geno
• Name: molybdenum cofactor synthesis 2; targeted mutation 1, Genoway
• MGI ID: MGI:7493923
• Synonyms: Mocs2A Q30X
• Gene: Mocs2 Location: Chr13:114954707-114965960 bp, + strand Genetic Position: Chr13, 64.61 cM
• Alliance: Mocs2^tm1Geno page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:336726
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: The Mocs2A subunit mutation, a C to T change at position 88 (c.88C>T) resulting in a glutamine to a termination codon at amino acid 30 (p.Q30*) was introduced in exon 3. In addition, a loxP-flanked neomycin cassette was inserted downstream of exon 3. This is a variant found in patients with molybdenum cofactor deficiency type B. (J:336726)

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 Mocs2 Mutation: 24 strains or lines available

References

• Original: J:336726 Reiss J, Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections. Hum Genet. 2019 Apr;138(4):355-361
• All: 1 reference(s)