Phenotypes Associated with This Genotype

Genotype
MGI:4830993

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

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

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