Phenotypes associated with this allele

• Allele Symbol: Atp6v1b2⁺
• Allele Name: wild type
• Allele ID: MGI:2434490
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Atp6v1b2^em1Pcamp/Atp6v1b2^+	C57BL/6N-Atp6v1b2^em1Pcamp	MGI:7567700
ht2	Atp6v1b2^tm1b(KOMP)Wtsi/Atp6v1b2^+	C57BL/6N-Atp6v1b2^tm1b(KOMP)Wtsi/Tcp	MGI:5756763
ht3	Atp6v1b2^tm1Yoyu/Atp6v1b2^+	involves: C57BL/6	MGI:6359427

Genotype
MGI:7567700

ht1

• Allelic Composition: Atp6v1b2^em1Pcamp/Atp6v1b2⁺
• Genetic Background: C57BL/6N-Atp6v1b2^em1Pcamp

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

behavior/neurological

behavior/neurological phenotype ( J:342781 )

N • no stimuli-induced or spontaneous seizures

increased susceptibility to pharmacologically induced seizures ( J:342781 )

• lower PTZ-induced seizure threshold and seizure latency

embryo

embryo phenotype ( J:342781 )

N • born at normal Mendelian ratios

growth/size/body

abnormal birth body size ( J:342781 )

• lower body weight

mortality/aging

mortality/aging ( J:342781 )

N • viable

nervous system

increased susceptibility to pharmacologically induced seizures ( J:342781 )

• lower PTZ-induced seizure threshold and seizure latency

Genotype
MGI:5756763

ht2

• Allelic Composition: Atp6v1b2^{tm1b(KOMP)Wtsi}/Atp6v1b2⁺
• Genetic Background: C57BL/6N-Atp6v1b2^{tm1b(KOMP)Wtsi}/Tcp
• Cell Lines: EPD0205_4_C02

Data Sources

IMPC Data for Atp6v1b2

endocrine/exocrine glands

small adrenal glands ( J:211773 )

IMPC - TCP

hematopoietic system

decreased hemoglobin content ( J:211773 )

♂

IMPC - TCP

decreased mean corpuscular hemoglobin ( J:211773 )

IMPC - TCP

decreased mean corpuscular hemoglobin concentration ( J:211773 )

♂

IMPC - TCP

decreased mean corpuscular volume ( J:211773 )

♀

IMPC - TCP

homeostasis/metabolism

increased circulating alkaline phosphatase level ( J:211773 )

♀

IMPC - TCP

immune system

small lymph nodes ( J:211773 )

♂

IMPC - TCP

Genotype
MGI:6359427

ht3

• 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