Phenotypes associated with this allele

• Allele Symbol: Uba6^tm1Whpr
• Allele Name: targeted mutation 1, Wade Harper
• Allele ID: MGI:5509054
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Uba6^tm1Whpr/Uba6^tm1Whpr	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6NTac	MGI:5470303
cn2	Uba6^tm1Whpr/Uba6^tm1Whpr Tg(Nes-cre)1Kln/0	B6.Cg-Uba6^tm1Whpr Tg(Nes-cre)1Kln	MGI:5511126

Genotype
MGI:5470303

hm1

• Allelic Composition: Uba6^tm1Whpr/Uba6^tm1Whpr
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6NTac

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

normal phenotype

no abnormal phenotype detected ( J:198126 )

• mice are viable and fertile

Genotype
MGI:5511126

cn2

• Allelic Composition: Uba6^tm1Whpr/Uba6^tm1Whpr; Tg(Nes-cre)1Kln/0
• Genetic Background: B6.Cg-Uba6^tm1Whpr Tg(Nes-cre)1Kln

mortality/aging

premature death ( J:198126 )

• a quarter of mice that survive to P21 die within 2 months

• however, lethality is partially rescued by making food more accessible

postnatal lethality, incomplete penetrance ( J:198126 )

• half of mice die between P5 and P21

behavior/neurological

impaired contextual conditioning behavior ( J:198126 )

• with altered response to an aversive stimulus

abnormal habituation to a new environment ( J:198126 )

• lack of habituation

abnormal spatial working memory ( J:198126 )

• in the Y-maze test

aphagia ( J:198126 )

• absence of stomach content in several mice at death

abnormal depression-related behavior ( J:198126 )

• in a forced swim test, mice spend less time immobilized compared with wild-type mice

increased thigmotaxis ( J:198126 )

abnormal pilomotor reflex ( J:198126 )

• constitutive without an alteration in body temperature

increased startle reflex ( J:198126 )

enhanced coordination ( J:198126 )

• slightly better performance on a rotarod

decreased grip strength ( J:198126 )

hyperactivity ( J:198126 )

• in a novel environment with a lack of habituation

• pronounced in the dark phase

abnormal nest building behavior ( J:198126 )

• aversion to nesting

abnormal social investigation ( J:198126 )

• mice prefer to explore an empty chamber rather than a stranger mouse

nervous system

nervous system phenotype ( J:198126 )

N • neuronal apoptosis at E14.5 and P5 is normal

decreased brain size ( J:198126 )

abnormal amygdala morphology ( J:198126 )

abnormal hippocampus morphology ( J:198126 )

abnormal hippocampus CA3 region morphology ( J:198126 )

• scattered neurons

abnormal dendritic spine morphology ( J:198126 )

• reduced density in the CA3 region and amygdala

decreased neuron number ( J:198126 )

• in the CA3 region as early as P5, the basolateral amygdala and piriform cortex

• however, the number of neurons is normal in the CA1, dentate gyrus, cortex and cerebellar regions

decreased prepulse inhibition ( J:198126 )

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:198126 )

N • mice exhibit normal body temperature and constant respiratory exchange ratio throughout the diurnal cycle

increased energy expenditure ( J:198126 )

increased carbon dioxide production ( J:198126 )

increased oxygen consumption ( J:198126 )

abnormal metabolism ( J:198126 )

• hypermetabolic

growth/size/body

decreased birth weight ( J:198126 )

decreased body weight ( J:198126 )

decreased body length ( J:198126 )

• at birth and 11 weeks