Phenotypes associated with this allele

• Allele Symbol: Del(7Gabrb3-Ube3a)1Yhj
• Allele Name: deletion, Chr 7, Yong-hui Jiang 1
• Allele ID: MGI:4830970
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Del(7Gabrb3-Ube3a)1Yhj/Del(7Gabrb3-Ube3a)1Yhj	B6.129S7-Del(7Gabrb3-Ube3a)1Yhj	MGI:4830991
ht2	Del(7Gabrb3-Ube3a)1Yhj/+	B6.129S7-Del(7Gabrb3-Ube3a)1Yhj	MGI:4830993

Genotype
MGI:4830991

hm1

• Allelic Composition: Del(7Gabrb3-Ube3a)1Yhj/Del(7Gabrb3-Ube3a)1Yhj
• Genetic Background: B6.129S7-Del(7Gabrb3-Ube3a)1Yhj

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

mortality/aging

lethality at weaning, complete penetrance ( J:164010 )

• two homozygotes out of 61 survived until weaning age, but died either 3 days or one week later

perinatal lethality, incomplete penetrance ( J:164010 )

• most homozygous mice die within 1-3 days of birth

• genotype distribution is normal at E16

growth/size/body

cleft palate ( J:164010 )

• in mice dying within 3 days of birth

decreased birth body size ( J:164010 )

decreased body size ( J:164010 )

• mice surviving to weaning are 20% smaller than controls

craniofacial

cleft palate ( J:164010 )

• in mice dying within 3 days of birth

behavior/neurological

abnormal food intake ( J:164010 )

• poor feeding by newborns with cleft palates

digestive/alimentary system

cleft palate ( J:164010 )

• in mice dying within 3 days of birth

Genotype
MGI:4830993

ht2

• Allelic Composition: Del(7Gabrb3-Ube3a)1Yhj/+
• Genetic Background: B6.129S7-Del(7Gabrb3-Ube3a)1Yhj

cellular

paternal imprinting ( J:164010 )

• central nervous system effects seen when deletion is inherited maternally but not paternally

behavior/neurological

impaired contextual conditioning behavior ( J:164010 )

• impaired contextual fear conditioning when deletion is inherited maternally but not paternally

• cued fear conditioning is normal

decreased exploration in new environment ( J:164010 )

• significantly fewer light/dark transitions in light/dark exploration tests when deletion is inherited maternally but not paternally

• significantly more time spent in the dark when inheritance is as above

abnormal spatial learning ( J:164010 )

• longer time required to find a hidden platform in a Morris maze test when deletion is inherited maternally but not paternally

impaired coordination ( J:164010 )

• significantly poorer performance in an accelerating rotarod test when deletion is inherited maternally but not paternally

• when deletion is inherited paternally performance is only slightly and insignificantly worse than controls

abnormal vocalization ( J:164010 )

• ultrasonic vocalizations tend to increase from day 6 to 12 when deletion is inherited maternally but not paternally

tonic-clonic seizures ( J:164010 )

• 24.4% show visible spontaneous tonic-clonic seizures at 3-6 months of age when deletion is inherited maternally but not paternally

• abnormal EEG as well

nervous system

tonic-clonic seizures ( J:164010 )

• 24.4% show visible spontaneous tonic-clonic seizures at 3-6 months of age when deletion is inherited maternally but not paternally

• abnormal EEG as well

abnormal brain wave pattern ( J:164010 )

• abnormal EEG accompanies spontaneous seizures when deletion is inherited maternally but not paternally

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Angelman syndrome		DOID:1932	OMIM:105830	J:164010