Phenotypes associated with this allele

• Allele Symbol: Mgat1^tm1Jxm
• Allele Name: targeted mutation 1, Jamey Marth
• Allele ID: MGI:1857217
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mgat1^tm1Jxm/Mgat1^tm1Jxm	involves: 129S2/SvPas * C57BL/6J	MGI:2175108

Genotype
MGI:2175108

hm1

• Allelic Composition: Mgat1^tm1Jxm/Mgat1^tm1Jxm
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:68330 )

• homozygotes are still viable at E9.5 but die by ~E10.5

embryo

incomplete embryo turning ( J:68330 )

• at E9.5, homozygotes often fail to complete axial turning

abnormal left-right axis patterning ( J:68330 )

• at E9.5, homozygotes frequently display inverted left-right asymmetry

embryonic growth arrest ( J:68330 )

• homozygous mutant embryos fail to develop beyond ~E9.0 but show normal formation of fore- , mid-, and hindbrain regions, branchial arches and myocardium

decreased embryo size ( J:68330 )

• at E9.5, homozygotes are 50%-66% the size of wild-type or heterozygous embryos

abnormal neural tube morphology ( J:68330 )

• at E9.5, homozygotes exhibit a highly convoluted neural tube with a staggered suture line

abnormal embryonic neuroepithelial layer differentiation ( J:68330 )

• at E9.5, homozygotes display a convoluted neural epithelium with increased numbers of mitotic figures in neural epithelial cells

incomplete somite formation ( J:68330 )

• at E9.5, homozygotes exhibit only 20-22 somite pairs vs 26 pairs found in wild-type embryos; those somites that form appear less well developed

growth/size/body

decreased embryo size ( J:68330 )

• at E9.5, homozygotes are 50%-66% the size of wild-type or heterozygous embryos

situs inversus ( J:68330 )

• at E9.5, homozygotes display situs inversus with an inverted tail and heart structure

cardiovascular system

abnormal vascular endothelial cell morphology ( J:68330 )

• at E9.5, homozygotes exhibit an expanded endothelial cell vasculature with multiple nucleated red blood cells in the fore- and midbrain regions

abnormal vascular development ( J:68330 )

• at E9.5, many homozygotes show vascular hypertrophy, with aberrant accumulation of red blood cells within dilated vessels in the primitive head region and in proximity to the dorsal aorta and primary head vein

abnormal direction of heart looping ( J:68330 )

• at E9.5, most homozygotes exhibit an inverted heart loop structure

hemorrhage ( J:68330 )

• by E10.5, homozygotes exhibit multiple hemorrhages

nervous system

abnormal neural tube morphology ( J:68330 )

• at E9.5, homozygotes exhibit a highly convoluted neural tube with a staggered suture line

abnormal embryonic neuroepithelial layer differentiation ( J:68330 )

• at E9.5, homozygotes display a convoluted neural epithelium with increased numbers of mitotic figures in neural epithelial cells

hematopoietic system

anemia ( J:68330 )

• at E9.5, some homozygotes appear anemic

limbs/digits/tail

abnormal tail position or orientation ( J:68330 )

• at E9.5, the mutant tail is abnormally oriented towards the left side of the embryo