Pmm2^tm1.1Cknr
Targeted Allele Detail

Summary

• Symbol: Pmm2^tm1.1Cknr
• Name: phosphomannomutase 2; targeted mutation 1.1, Christian Korner
• MGI ID: MGI:5311936
• Synonyms: Pmm2^F118L
• Gene: Pmm2 Location: Chr16:8455467-8475472 bp, + strand Genetic Position: Chr16, 4.24 cM
• Alliance: Pmm2^tm1.1Cknr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:180794
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: A floxed neo cassette was inserted upstream of exon 3. Exons 5 was replaced with one in which nucleotide substitution results in the amino acid substitution of leucine for phenylalanine at position 118 (F118L). Cre-mediated recombination removed the neo cassette. (J:180794)

Expression

In Structures Affected by this Mutation:

2 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 Pmm2 Mutation: 25 strains or lines available

References

• Original: J:180794 Schneider A, et al., Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice. Nat Med. 2012 Jan;18(1):71-3
• All: 1 reference(s)