Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Pmm2tm1.1Cknr
Name:	phosphomannomutase 2; targeted mutation 1.1, Christian Korner
MGI ID:	MGI:5311936
Synonyms:	Pmm2F118L
Gene:	Pmm2  Location: Chr16:8455467-8475472 bp, + strand  Genetic Position: Chr16, 4.24 cM
Alliance:	Pmm2tm1.1Cknr page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:	24 strains or lines available

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)