Phenotypes Associated with This Genotype

Genotype
MGI:2176436

• Allelic Composition: Htt^tm1Szi/Htt^tm1Szi
• Genetic Background: either: (involves: 129/Sv * C57BL/6J) or (involves: 129/Sv * MF1)

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

mortality/aging

embryonic lethality, complete penetrance ( J:29267 )

• die between E8.5 and E10.5

embryo

increased embryonic tissue cell apoptosis ( J:29267 )

• E7.5 embryos exhibit an increase in apoptotic cells

increased embryonic epiblast cell apoptosis ( J:29267 )

• epiblast contains numerous pyknotic nuclei

embryonic growth arrest ( J:29267 )

• at E8.5, embryos appear underdeveloped and have not progressed beyond the E7.5 egg cylinder stage, however E6.5 embryos are indistinguishable from wild-type

abnormal embryonic tissue morphology ( J:29267 )

abnormal egg cylinder morphology ( J:29267 )

• egg cylinders are smaller and stubby at E7.5

decreased egg cylinder size ( J:29267 )

• egg cylinders are smaller at E7.5

disorganized embryonic tissue ( J:29267 )

• despite the formation of the three germ layers, embryos do not expand normally, are disorganized, and exhibit dense, amorphous masses of cells in some areas

abnormal extraembryonic tissue morphology ( J:29267 )

abnormal amniotic cavity morphology ( J:29267 )

• at E8.5, the amniotic cavity often contains dead cells with pyknotic nuclei

small amniotic cavity ( J:29267 )

• at E8.5, the amniotic cavity is small

abnormal Reichert's membrane morphology ( J:29267 )

• thicker Reichert's membrane that exhibits many interspersed nodules covered with clusters of parietal cells

increased Reichert's membrane thickness ( J:29267 )

disorganized extraembryonic tissue ( J:29267 )

• extraembryonic portion of the E7.5 embryo appears folded and disorganized

abnormal visceral endoderm morphology ( J:29267 )

• the surface of the visceral endoderm consists of semi-spherical blebs due to numerous invaginations

cellular

increased embryonic tissue cell apoptosis ( J:29267 )

• E7.5 embryos exhibit an increase in apoptotic cells

increased embryonic epiblast cell apoptosis ( J:29267 )

• epiblast contains numerous pyknotic nuclei

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Huntington's disease	DOID:12858	OMIM:143100	J:29267