Phenotypes Associated with This Genotype

Genotype
MGI:5811784

• Allelic Composition: Pmm2^tm1.1Jins/Pmm2^tm2.1Jins
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

mortality/aging

premature death ( J:236704 )

• 50.9% survival at P65

prenatal lethality, incomplete penetrance ( J:236704 )

• significant embryonic lethality after 12.5 days post coitum, with only 9.5% instead of the expected 25% surviving to term

• providing dams with mannose does not rescue the embryonic lethality

cardiovascular system

abnormal myocardium layer morphology ( J:236704 )

• mild myocardial atrophy is seen in 4 week old mice

abnormal myocardial fiber morphology ( J:236704 )

• decreased width of individual myofibers

thin interventricular septum ( J:236704 )

• decreased thickness of the interventricular septum

thin ventricular wall ( J:236704 )

• decreased thickness of both left and right ventricular walls

craniofacial

large posterior fontanelle ( J:236704 )

• some mice show failed closure of the posterior fontanelle

growth/size/body

decreased body size ( J:236704 )

decreased body weight ( J:236704 )

homeostasis/metabolism

abnormal blood homeostasis ( J:236704 )

• plasma levels of anithrombin III are reduced by 37%, insulin-like growth factor 1 by 30%, and IGF binding protein-3 by 41% and acid-labile subunit is nearly completely absent

decreased circulating insulin-like growth factor I level ( J:236704 )

• insulin-like growth factor 1 plasma levels are reduced by 30%

decreased circulating antithrombin level ( J:236704 )

• plasma levels of antithrombin III are reduced by 37%

liver/biliary system

Mallory bodies ( J:236704 )

• mice show presence of hepatocellular eosinophilic cytoplasmic hyaline bodies

muscle

abnormal myocardium layer morphology ( J:236704 )

• mild myocardial atrophy is seen in 4 week old mice

abnormal myocardial fiber morphology ( J:236704 )

• decreased width of individual myofibers

hypotonia ( J:236704 )

• 6% of mice show hind leg hypotonia

renal/urinary system

abnormal proximal convoluted tubule morphology ( J:236704 )

• rare degenerate cells are present within the tubular epithelium or lumen

proximal convoluted tubule brush border loss ( J:236704 )

• loss of definition of the brush border of tubular epithelium

dilated proximal convoluted tubule ( J:236704 )

• mild dilation in the proximal tubule is consistently observed in the kidneys and is characterized by increased luminal space and loss of definition of the brush border of tubular epithelium

skeleton

large posterior fontanelle ( J:236704 )

• some mice show failed closure of the posterior fontanelle

abnormal vertebral column morphology ( J:236704 )

• some mice show defective development of the cervical spine near the base of the skull

kyphosis ( J:236704 )

• 29% of mice have various degrees of kyphosis

vision/eye

abnormal eye morphology ( J:236704 )

• about 10% of mice exhibit various ocular anomalies, including appearance of secreta and inability to open the eye

hematopoietic system

hematopoietic system phenotype ( J:236704 )

N • mice do not show histological abnormalities in the lungs, spleen, or central nervous system at 4 weeks of age

nervous system

nervous system phenotype ( J:236704 )

N • mice do not show histological abnormalities in the lungs, spleen, or central nervous system at 4 weeks of age

respiratory system

respiratory system phenotype ( J:236704 )

N • mice do not show histological abnormalities in the lungs, spleen, or central nervous system at 4 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital disorder of glycosylation type I		DOID:0050570	OMIM:PS212065	J:23604