Mocs2^tm2Geno
Targeted Allele Detail

Summary

• Symbol: Mocs2^tm2Geno
• Name: molybdenum cofactor synthesis 2; targeted mutation 2, Genoway
• MGI ID: MGI:7493924
• Synonyms: Mocs2B c.726_727del2
• Gene: Mocs2 Location: Chr13:114954707-114965960 bp, + strand Genetic Position: Chr13, 64.61 cM
• Alliance: Mocs2^tm2Geno 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)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The Mocs2B subunit mutation, a 2 bp deletion of AA at position 726 and 727 (c.726_727delAA) was introduced via homologous recombination. The deletion of the two nucleotides is predicted to result in the replacement of the last nine amino acids by seven de novo amino acids in the mouse. In the human, the same deletion results in the addition of 30 de novo amino acids. To resemble the pathological state in humans, the last 27 coding nucleotides in the mouse sequence was replaced by the human sequence coding for the 30 de novo amino acid as expected for the c.726_727delAA mutation. A loxP-flanked neomycin cassette was inserted upstream of exon 8. (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)