Phenotypes associated with this allele

• Allele Symbol: Auts2⁺
• Allele Name: wild type
• Allele ID: MGI:3511076
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Auts2^em1(IMPC)Wtsi/Auts2^+	C57BL/6N-Auts2^em1(IMPC)Wtsi/Wtsi	MGI:6261941
ht2	Auts2^tm1Mhos/Auts2^+	C57BL/6N-Auts2^tm1Mhos	MGI:6156953
ht3	Auts2^tm1.2Mhos/Auts2^+	involves: C57BL/6 * C57BL/6N	MGI:6156955
cn4	Auts2^tm1.1Dare/Auts2^+ Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5697533

Genotype
MGI:6261941

ht1

• Allelic Composition: Auts2^{em1(IMPC)Wtsi}/Auts2⁺
• Genetic Background: C57BL/6N-Auts2^{em1(IMPC)Wtsi}/Wtsi

Data Sources

IMPC Data for Auts2

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

growth/size/body

increased lean body mass ( J:211773 )

IMPC - WTSI

decreased body length ( J:211773 )

♀

IMPC - WTSI

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

Genotype
MGI:6156955

ht3

• Allelic Composition: Auts2^tm1.2Mhos/Auts2⁺
• Genetic Background: involves: C57BL/6 * C57BL/6N

cellular

abnormal neuronal migration ( J:243531 )

• neurons exhibit migration defects to layers II-IV of cerebral cortices at E18.5

nervous system

abnormal neuronal migration ( J:243531 )

• neurons exhibit migration defects to layers II-IV of cerebral cortices at E18.5

abnormal collateral sprouting ( J:243531 )

• cortical neurons isolated from E16.5 mutants and cultured in dissociated cell culture exhibit reduced length and branch number of putative axons and dendrites, indicating impaired neuritogenesis

Genotype
MGI:5697533

cn4

• Allelic Composition: Auts2^tm1.1Dare/Auts2⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

behavior/neurological

decreased vocalization ( J:217675 )

• heterozygous mice show significantly less ultrasonic vocalizations (USVs) than wild type following maternal separation across the majority of developmental time points measured

growth/size/body

decreased body length ( J:217675 )

• a reduction in the body length of the heterozygous mice is seen relative to controls but heterozygotes show an intermediate phenotype relative to knockout littermates