Phenotypes Associated with This Genotype

Genotype
MGI:3698001

• Allelic Composition: Htt^tm7Mem/Htt^tm7Mem
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * CD-1

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

mortality/aging

neonatal lethality, complete penetrance ( J:44391 )

• survivors die within 2 days after birth

perinatal lethality, incomplete penetrance ( J:44391 )

• almost one half are stillborn

nervous system

abnormal midbrain morphology ( J:44391 )

• enlarged furrowed midbrain that hides the cerebellum

abnormal cerebral aqueduct morphology ( J:44391 )

• the aqueduct is enlarged and displaced

enlarged cerebral aqueduct ( J:44391 )

abnormal forebrain morphology ( J:44391 )

• elongated and misshapen forebrain

abnormal thalamus morphology ( J:44391 )

• architectural abnormalities

abnormal telencephalon morphology ( J:44391 )

• architectural anomalies in the septal nucleus

abnormal lateral ventricle morphology ( J:44391 )

• lateral ventricles are displaced

• ectopic tissue masses are found in the lateral ventricles

dilated lateral ventricle ( J:44391 )

abnormal striatum morphology ( J:44391 )

• architectural abnormalities

• however, newborn brains do not exhibit evidence of the striatal or cortical pathology that is seen in Huntington's disease

abnormal cerebral cortex morphology ( J:44391 )

• architectural abnormalities in the parasagittal cerebral cortex

abnormal postnatal subventricular zone morphology ( J:44391 )

• newborns exhibit ectopic tissue masses in the subventricular zone

abnormal nervous system tract morphology ( J:44391 )

• agenesis of white-matter tracts

abnormal anterior commissure morphology ( J:44391 )

• anterior commissure is not well formed

craniofacial

abnormal cranium morphology ( J:44391 )

• oddly shaped, elongated cranium

lowered ear position ( J:44391 )

• uni- or bilateral

abnormal ear shape ( J:44391 )

• uni- or bilateral misshapen and narrowed external ears

hearing/vestibular/ear

lowered ear position ( J:44391 )

• uni- or bilateral

abnormal ear shape ( J:44391 )

• uni- or bilateral misshapen and narrowed external ears

skeleton

abnormal cranium morphology ( J:44391 )

• oddly shaped, elongated cranium

integument

thick skin ( J:44391 )

• thickened dehydrated skin

growth/size/body

lowered ear position ( J:44391 )

• uni- or bilateral

abnormal ear shape ( J:44391 )

• uni- or bilateral misshapen and narrowed external ears

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Huntington's disease	DOID:12858	OMIM:143100	J:44391