Phenotypes associated with this allele

• Allele Symbol: Atp6v1b2^tm1Yoyu
• Allele Name: targeted mutation 1, Yongyi Yuan
• Allele ID: MGI:6358819
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp6v1b2^tm1Yoyu/Atp6v1b2^tm1Yoyu	involves: C57BL/6	MGI:6359426
ht2	Atp6v1b2^tm1Yoyu/Atp6v1b2^+	involves: C57BL/6	MGI:6359427

Genotype
MGI:6359426

hm1

• Allelic Composition: Atp6v1b2^tm1Yoyu/Atp6v1b2^tm1Yoyu
• Genetic Background: involves: C57BL/6

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

behavior/neurological

behavior/neurological phenotype ( J:278514 )

N • normal anxiety behavior in open field test, elevated plus maze and light-dark exploration test

impaired passive avoidance behavior ( J:278514 )

• no change in latency to enter hostile environment across three test days

impaired short-term object recognition memory ( J:278514 )

• no difference between time spent on new and old block

environmentally induced seizures ( J:278514 )

• epilepsy induced by lower temperatures and being placed in water for Morris water maze test

growth/size/body

slow postnatal weight gain ( J:278514 )

• significantly lower weight from age 8 weeks

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:278514 )

N • normal auditory brainstem response at ages 12 and 24 weeks

N • normal inner ear morphology

nervous system

environmentally induced seizures ( J:278514 )

• epilepsy induced by lower temperatures and being placed in water for Morris water maze test

abnormal hippocampus CA1 region morphology ( J:278514 )

• significantly reduced number of mature neurons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant congenital deafness with onychodystrophy		DOID:0080720	OMIM:124480	J:278514

Genotype
MGI:6359427

ht2

• Allelic Composition: Atp6v1b2^tm1Yoyu/Atp6v1b2⁺
• Genetic Background: involves: C57BL/6

behavior/neurological

behavior/neurological phenotype ( J:278514 )

N • normal anxiety behavior in open field test, elevated plus maze and light-dark exploration test

N • normal number of mature neurons in hippocampus CA1 region

impaired passive avoidance behavior ( J:278514 )

• no change in latency to enter hostile environment across three test days

impaired short-term object recognition memory ( J:278514 )

• no difference between time spent on new and old block

growth/size/body

growth/size/body region phenotype ( J:278514 )

N • normal weight and weight gain

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:278514 )

N • normal auditory brainstem response at ages 12 and 24 weeks

N • normal inner ear morphology

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant congenital deafness with onychodystrophy		DOID:0080720	OMIM:124480	J:278514