Phenotypes associated with this allele

• Allele Symbol: Pmm2^tm1.1Cknr
• Allele Name: targeted mutation 1.1, Christian Korner
• Allele ID: MGI:5311936
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pmm2^tm1.1Cknr/Pmm2^tm1.1Cknr	involves: C57BL/6J	MGI:5311940
ht2	Pmm2^tm1.1Cknr/Pmm2^tm2.1Cknr	involves: C57BL/6J	MGI:5311941

Genotype
MGI:5311940

hm1

• Allelic Composition: Pmm2^tm1.1Cknr/Pmm2^tm1.1Cknr
• Genetic Background: involves: C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

normal phenotype

no abnormal phenotype detected ( J:180794 )

• mice exhibit normal development into adulthood

Genotype
MGI:5311941

ht2

• Allelic Composition: Pmm2^tm1.1Cknr/Pmm2^tm2.1Cknr
• Genetic Background: involves: C57BL/6J

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:180794 )

• mice die between E9.5 and E10.5

• however, mannose supplementation increases survival to beyond weaning even after post-weaning withdrawal of mannose supplementation

embryo

embryo phenotype ( J:180794 )

N • supplementation of dam drinking water with mannose rescues embryogenesis

embryonic growth retardation ( J:180794 )

• between E7.5 and E9.5

abnormal embryonic tissue morphology ( J:180794 )

• at E10.0, mice exhibit degradation of embryonic structures (breakdown of myocardial tissues and reduction of compactness of neural epithelium and cephalic mesenchyme) unlike wild-type mice

abnormal head mesenchyme morphology ( J:180794 )

• reduction of compactness of cephalic mesenchyme at E10.0

abnormal embryonic neuroepithelium morphology ( J:180794 )

• reduction of compactness of neural epithelium at E10.0

abnormal extraembryonic tissue morphology ( J:180794 )

• massive hemorrhage within extraembryonic supporting structures at E10.0

abnormal trophoblast giant cell morphology ( J:180794 )

• potential loss of trophoblast giant cells

cardiovascular system

abnormal myocardium layer morphology ( J:180794 )

• breakdown at E10.0

hemorrhage ( J:180794 )

• massive hemorrhage within extraembryonic supporting structures at E10.0

cellular

abnormal cell physiology ( J:180794 )

• embryonic fibroblasts and whole embryos exhibit reduced general protein hypoglycosylation compared with wild-type cells and embryos

• however, supplementation with mannose restores glycosylation even after post-weaning withdrawal of mannose supplementation

growth/size/body

embryonic growth retardation ( J:180794 )

• between E7.5 and E9.5

abnormal head mesenchyme morphology ( J:180794 )

• reduction of compactness of cephalic mesenchyme at E10.0

decreased body length ( J:180794 )

• at E9.5

nervous system

abnormal embryonic neuroepithelium morphology ( J:180794 )

• reduction of compactness of neural epithelium at E10.0

muscle

abnormal myocardium layer morphology ( J:180794 )

• breakdown at E10.0