Phenotypes associated with this allele

• Allele Symbol: Otud7a^em1Cpsc
• Allele Name: endonuclease-mediated mutation 1, Christian Schaaf
• Allele ID: MGI:6108137
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Otud7a^em1Cpsc/Otud7a^em1Cpsc	C57BL/6J-Otud7a^em1Cpsc	MGI:6115021
ht2	Otud7a^em1Cpsc/Otud7a^+	C57BL/6J-Otud7a^em1Cpsc	MGI:6115022

Genotype
MGI:6115021

hm1

• Allelic Composition: Otud7a^em1Cpsc/Otud7a^em1Cpsc
• Genetic Background: C57BL/6J-Otud7a^em1Cpsc

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

behavior/neurological

decreased startle reflex ( J:259730 )

• reduced acoustic startle response

impaired coordination ( J:259730 )

• impaired performance on rotarod

decreased grip strength ( J:259730 )

abnormal vocalization ( J:259730 )

• impaired ultrasonic vocalization

behavioral developmental delay ( J:259730 )

• delay in development of negative geotaxis reflex

• delay in development of cliff aversion

abnormal spike wave discharge ( J:259730 )

• repetitive-spike events and some seizure-like events associated with behavioral arrest

craniofacial

delayed tooth eruption ( J:259730 )

• delayed incisor growth

growth/size/body

delayed tooth eruption ( J:259730 )

• delayed incisor growth

decreased body weight ( J:259730 )

• 30% weight reduction

nervous system

abnormal spike wave discharge ( J:259730 )

• repetitive-spike events and some seizure-like events associated with behavioral arrest

decreased dendritic spine density ( J:259730 )

abnormal miniature excitatory postsynaptic currents ( J:259730 )

• reduced in the frontal cortex

decreased prepulse inhibition ( J:259730 )

♀ • females exhibit reduced prepulse inhibition

skeleton

delayed tooth eruption ( J:259730 )

• delayed incisor growth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chromosome 15q13.3 microdeletion syndrome		DOID:0060394	OMIM:612001	J:259730

Genotype
MGI:6115022

ht2

• Allelic Composition: Otud7a^em1Cpsc/Otud7a⁺
• Genetic Background: C57BL/6J-Otud7a^em1Cpsc

behavior/neurological

decreased startle reflex ( J:259730 )

• reduced acoustic startle response, however, phenotype is not as severe as in homozygote

abnormal vocalization ( J:259730 )

• impaired ultrasonic vocalization, however, phenotype is not as severe as in homozygote