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Phenotypes Associated with This Genotype
Genotype
MGI:2667777
Allelic
Composition
Mgat2tm1.1Jxm/Mgat2tm1.1Jxm
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mgat2tm1.1Jxm mutation (0 available); any Mgat2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• observed in approximately 20% of mice
• transient paralysis observed in approximately 20% of mice

cardiovascular system
• stomach and intestines were filled with blood in several cases

craniofacial
• dysmorphic facial features

digestive/alimentary system
• stomach and intestines were filled with blood in several cases
• reduced mucin levels, putatively leading to decreased food motility and digestion as well as constipation and obstipation

growth/size/body
• dysmorphic facial features
• mice suriving to 8 days of age were half the size of littermates
• surviving fetuses were 20% smaller than wild-type and heterozygous fetuses at E15

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

homeostasis/metabolism
• reduced levels of total serum protein
• 13% to 15% increase in activated partial prothromboplastin time (APTT)

muscle
• reduced musclular development resulting in reduced muscle fiber diameter

skeleton
• density reduced by over 30% relative to wild-type
• normal osteoblast activity, indicating increased resorption by osteoclasts
• the formation of secondary ossification sites was delayed such that they were absent at E13

nervous system
N
• brain development appeared to be normal with no abnormalities detected in the cortex, hippocampus, olfactory bulb, or brainstem
• the cerebellum was of proportional size and contained a normal complement of Purkinje cells
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/31/2020
MGI 6.15
The Jackson Laboratory