Phenotypes Associated with This Genotype

Genotype
MGI:5555967

• Allelic Composition: Tg(Camk2a-tTA)1Mmay/0; Tg(tetO-Rai1,-EGFP)479Walz/0
• Genetic Background: involves: C57BL/6J * CBA/J

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

growth/size/body

decreased body weight ( J:207141 )

• mutants start to show lower weight at 2 months of age

• mutants treated with Dox to turn off transgene expression from conception to 3 months of age show normal weight

• Dox administration from 1 to 3 months of age to turn off transgene expression before the onset of abnormalities is seen does not prevent abnormal phenotypes, with mutants developing lower weight from 9 weeks of age

• Dox administration from 3 to 5 months of age to turn off transgene expression after the onset of abnormal phenotypes does not result in recovery after 2 months of Dox treatment

behavior/neurological

impaired contextual conditioning behavior ( J:207141 )

• mutants show less freezing in the contextual fear test, indicating that learning and/or memory are impaired

• mutants treated with Dox to turn off transgene expression from conception to 3 months of age show normal contextual memory

• Dox administration from 1 to 3 months of age to turn off transgene expression before the onset of abnormalities is seen does not prevent abnormal phenotypes, with mutants developing impaired learning and memory in the fear contextual conditioning test

impaired cued conditioning behavior ( J:207141 )

• mutants show less freezing in the sound cued fear tests, indicating that learning and/or memory are impaired

• mutants treated with Dox to turn off transgene expression from conception to 3 months of age still show impaired memory in the sound cue test

• Dox administration from 1 to 3 months of age to turn off transgene expression before the onset of abnormalities is seen does not prevent abnormal phenotypes, with mutants developing impaired learning and memory in the cued conditioning tests

increased locomotor activity ( J:207141 )

• in the open field, mutants show an increase in total distance traveled indicating hyperactivity

• however anxiety-like behavior is not observed and mice show normal sociability and preference for social novelty

• mutants treated with Dox to turn off transgene expression from conception to 3 months of age show normal activity

• Dox administration from 1 to 3 months of age to turn off transgene expression before the onset of abnormalities is seen does not prevent abnormal phenotypes, with mutants developing hyperactivity

decreased vocalization ( J:207141 )

• lower percentage of vocalization, with mutants showing 8% vocalization compared to 29% in wild-type mice

adipose tissue

decreased abdominal fat pad weight ( J:207141 )

• mutants show lower abdominal fat weight

• mutants treated with Dox to turn off transgene expression from conception to 3 months of age show normal abdominal fat weight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Potocki-Lupski syndrome		DOID:0060853	OMIM:610883	J:207141