Phenotypes Associated with This Genotype

Genotype
MGI:7284279

• Allelic Composition: Chmp2b^tm1.1Hiok/Chmp2b⁺
• Genetic Background: involves: C57BL/6J

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

nervous system

abnormal cerebral cortex morphology ( J:308471 )

• cytoplasmic ubiquitinated NUP62 aggregates in frontal association cortex and M2 motor cortex from age 6 months and dysgranular retrosplenial cortex from age 6 months

abnormal frontal lobe morphology ( J:308471 )

• cytoplasmic ubiquitinated NUP62 aggregates in frontal association cortex from age 6 months

abnormal primary motor cortex morphology ( J:308471 )

• cytoplasmic ubiquitinated NUP62 aggregates in M2 motor cortex from age 6 months

cellular

abnormal endoplasmic reticulum morphology ( J:308471 )

• ER expansion in cortical neurons

abnormal cell cycle checkpoint function ( J:308471 )

• delayed or arrested G1/S transition in embryonic neural stem cells (NSCs) from cerebral cortex of E15 embryos

cellular necrosis ( J:308471 )

• early-stage transcriptional repression-induced atypical cell death (TRIAD) necrosis of neurons in cerebral cortex from ages 1 to 12 months, peaking at 3 months

behavior/neurological

impaired spatial learning ( J:308471 )

• increased latency to find platform in Morris water maze test from age 1 months

increased anxiety-related response ( J:308471 )

• increased distance traveled in open field test and less time spent in light in light-dark box test from age 6 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
frontotemporal dementia		DOID:9255	OMIM:600274	J:308471