Phenotypes associated with this allele

• Allele Symbol: Auts2^tm1Mhos
• Allele Name: targeted mutation 1, Mikio Hoshino
• Allele ID: MGI:6156948
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Auts2^tm1Mhos/Auts2^tm1Mhos	C57BL/6N-Auts2^tm1Mhos	MGI:6156952
ht2	Auts2^tm1Mhos/Auts2^+	C57BL/6N-Auts2^tm1Mhos	MGI:6156953

Genotype
MGI:6156952

hm1

• Allelic Composition: Auts2^tm1Mhos/Auts2^tm1Mhos
• Genetic Background: C57BL/6N-Auts2^tm1Mhos

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

mortality/aging

neonatal lethality, complete penetrance ( J:243531 )

cellular

abnormal neuronal migration ( J:243531 )

• a significant proportion of BrdU+ cells abnormally remain in the deep layer of E18.5 brains, suggesting that cortical neuronal migration is impaired

• however, mutants show normal gross morphology and histology of brains and no difference in the rate of the cell cycle exit in the developing cerebral cortices or thickness of the ventricular zone compared to controls

nervous system

abnormal neuronal migration ( J:243531 )

• a significant proportion of BrdU+ cells abnormally remain in the deep layer of E18.5 brains, suggesting that cortical neuronal migration is impaired

• however, mutants show normal gross morphology and histology of brains and no difference in the rate of the cell cycle exit in the developing cerebral cortices or thickness of the ventricular zone compared to controls

Genotype
MGI:6156953

ht2

• Allelic Composition: Auts2^tm1Mhos/Auts2⁺
• Genetic Background: C57BL/6N-Auts2^tm1Mhos

behavior/neurological

behavior/neurological phenotype ( J:261355 )

N • in the three-chambered social interaction test, mice show normal social approach behaviors toward other mice

impaired cued conditioning behavior ( J:261355 )

• in the fear conditioning memory test, mice show a decrease in tone-dependent freezing time compared to wild-type mice and show a higher response to nociceptive stimuli, suggesting impaired associative memory function

• however, mice do not show differences in context-dependent freezing

abnormal habituation to a new environment ( J:261355 )

• mice exhibit impaired habituation to a novel environment

impaired long-term object recognition memory ( J:261355 )

• in the novel object recognition test, mice show decreased exploratory preference to the novel object in the retention session, indicating impaired recognition memory

decreased exploration in new environment ( J:261355 )

• mice exhibit decreased exploratory behavior during the first 30 min of the test most likely due to impaired habituation to the novel environment since motor coordination is normal on the rotarod

• mice spend more time in the center area of the open field than in the outer area compared to wild-type mice

• mice show a reduction of total distance traveled in the open field

decreased anxiety-related response ( J:261355 )

• in the elevated plus maze, mice show increased percentage of open arm entry and decreased closed arm entry compared to wild-type mice

• however, the total time spend in either arm and the total frequency of entry into either arm of the elevated plus maze are not different, indicating normal motor ability and increased anxiety-like behavior

increased startle reflex ( J:261355 )

• mice exhibit a higher acoustic startle response at 120 dB

• however, mice exhibit normal prepulse inhibition

cellular

abnormal neuronal migration ( J:243531 )

• a proportion of BrdU+ cells abnormally remain in the deep layer of E18.5 brains, suggesting that cortical neuronal migration is impaired

growth/size/body

decreased body weight ( J:261355 )

• 8 month old mice exhibit a slight decrease in body weight

nervous system

abnormal neuronal migration ( J:243531 )

• a proportion of BrdU+ cells abnormally remain in the deep layer of E18.5 brains, suggesting that cortical neuronal migration is impaired

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant intellectual developmental disorder 26		DOID:0070056	OMIM:615834	J:261355