Phenotypes Associated with This Genotype

Genotype
MGI:2667777

• Allelic Composition: Mgat2^tm1.1Jxm/Mgat2^tm1.1Jxm
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:80661 )

• approximately 25% died between E9 and E15

postnatal lethality, complete penetrance ( J:80661 )

• some pups failed to feed and others were ignored or cannibalized

• 1% survived to 2 weeks of age and none lived longer than 4 weeks

behavior/neurological

tremors ( J:80661 )

• observed in approximately 20% of mice

abnormal locomotor behavior ( J:80661 )

paralysis ( J:80661 )

• transient paralysis observed in approximately 20% of mice

cardiovascular system

gastrointestinal hemorrhage ( J:80661 )

• stomach and intestines were filled with blood in several cases

craniofacial

abnormal facial morphology ( J:80661 )

• dysmorphic facial features

digestive/alimentary system

gastrointestinal hemorrhage ( J:80661 )

• stomach and intestines were filled with blood in several cases

rectal prolapse ( J:80661 )

abnormal digestion ( J:80661 )

• reduced mucin levels, putatively leading to decreased food motility and digestion as well as constipation and obstipation

growth/size/body

abnormal facial morphology ( J:80661 )

• dysmorphic facial features

decreased body size ( J:80661 )

• mice suriving to 8 days of age were half the size of littermates

decreased fetal size ( J:80661 )

• surviving fetuses were 20% smaller than wild-type and heterozygous fetuses at E15

hematopoietic system

anemia ( J:80661 )

• 25% to 30% decrease in circulating red blood cells

increased mean corpuscular volume ( J:80661 )

reticulocytosis ( J:80661 )

homeostasis/metabolism

hypoglycemia ( J:80661 )

decreased circulating calcium level ( J:80661 )

decreased circulating total protein level ( J:80661 )

• reduced levels of total serum protein

increased partial thromboplastin time ( J:80661 )

• 13% to 15% increase in activated partial prothromboplastin time (APTT)

muscle

abnormal muscle development ( J:80661 )

• reduced musclular development resulting in reduced muscle fiber diameter

skeleton

kyphoscoliosis ( J:80661 )

decreased bone mineral density ( J:80661 )

• density reduced by over 30% relative to wild-type

• normal osteoblast activity, indicating increased resorption by osteoclasts

delayed bone ossification ( J:80661 )

• the formation of secondary ossification sites was delayed such that they were absent at E13

nervous system

nervous system phenotype ( J:80661 )

N • brain development appeared to be normal with no abnormalities detected in the cortex, hippocampus, olfactory bulb, or brainstem

N • the cerebellum was of proportional size and contained a normal complement of Purkinje cells

abnormal PNS synaptic transmission ( J:80661 )

• enhanced neuromuscular synaptic transmission, putatively due to a reduction in muscle fiber diameter

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital disorder of glycosylation type IIa		DOID:0070253	OMIM:212066	J:80661