Pmm2^tm2.1Jins
Targeted Allele Detail

Summary

• Symbol: Pmm2^tm2.1Jins
• Name: phosphomannomutase 2; targeted mutation 2.1, Shengfang Jin
• MGI ID: MGI:5811781
• Synonyms: Pmm2^R137H
• Gene: Pmm2 Location: Chr16:8455467-8475472 bp, + strand Genetic Position: Chr16, 4.24 cM
• Alliance: Pmm2^tm2.1Jins page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:236704
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 5 was replaced with one in which nucleotide substitution results in the amino acid substitution of histidine for arginine at position 137 (R137H). A loxP-flanked neomycin resistance cassette was inserted upstream of exon 5. Cre-mediated recombination removed the neo cassette. (J:236704)

Disease models

Expression

In Structures Affected by this Mutation:

8 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 Pmm2 Mutation: 25 strains or lines available

References

• Original: J:236704 Chan B, et al., A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2. Hum Mol Genet. 2016 Jun 1;25(11):2182-2193
• All: 1 reference(s)