Phenotypes Associated with This Genotype

Genotype
MGI:6275610

• Allelic Composition: Atxn1^tm2Hzo/Atxn1^tm2Hzo; Atxn1l^tm2Hzo/Atxn1l^tm2Hzo; Emx1^tm1(cre)Krj/Emx1⁺
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd

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

behavior/neurological

impaired contextual conditioning behavior ( J:240674 )

• in a fear conditioning assay, mice exhibit reduced freezing, especially in the test of spatial context, indicating impaired learning and memory

• however, mice show normal social behavior in the three-chamber test

decreased anxiety-related response ( J:240674 )

• in the elevated plus-maze test, mice spend more time in the open arm and less in the closed arm, indicating reduced anxiety

increased locomotor activity ( J:240674 )

• mice cover a greater distance at a greater speed in the open-field test

nervous system

decreased dentate gyrus size ( J:240674 )

• the hippocampal dentate gyrus shows decreased thickness at 20 weeks of age, however the CA1 and CA3 regions are normal

decreased cerebral cortex cell number ( J:240674 )

• the number of CUX1+ neurons in layers 2-4 is reduced

• however, the corpus callosum appears normal

thin cerebral cortex ( J:240674 )

• mice show reduced thickness of cortical layers 2-4 at 5 and 20 weeks of age, whereas thickness of layers 5 and 6 remains normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
disease of mental health		DOID:150		J:240674