Phenotypes associated with this allele

• Allele Symbol: Atp2b1⁺
• Allele Name: wild type
• Allele ID: MGI:2433371
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Atp2b1^tm1b(KOMP)Wtsi/Atp2b1^+	C57BL/6N-Atp2b1^tm1b(KOMP)Wtsi/Tcp	MGI:5756750
ht2	Atp2b1^Tg(Thy1-CHMP2B*)1Rene/Atp2b1^+	involves: C57BL/6 * DBA/2 * FVB/N	MGI:6278937
cx3	Atp2b1^tm1Ges/Atp2b1^+ Atp2b4^tm1Ges/Atp2b4^tm1Ges	Black Swiss	MGI:3051593

Genotype
MGI:5756750

ht1

• Allelic Composition: Atp2b1^{tm1b(KOMP)Wtsi}/Atp2b1⁺
• Genetic Background: C57BL/6N-Atp2b1^{tm1b(KOMP)Wtsi}/Tcp
• Cell Lines: EPD0797_1_C06

Data Sources

IMPC Data for Atp2b1

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

hearing/vestibular/ear

abnormal auditory brainstem response ( J:211773 )

IMPC - UCD

homeostasis/metabolism

decreased circulating calcium level ( J:211773 )

IMPC - UCD

integument

abnormal vibrissa morphology ( J:211773 )

♀

IMPC - UCD

absent vibrissae ( J:211773 )

♀

IMPC - UCD

reproductive system

abnormal epididymis morphology ( J:211773 )

♂

IMPC - UCD

enlarged epididymis ( J:211773 )

♂

IMPC - UCD

Genotype
MGI:6278937

ht2

• Allelic Composition: Atp2b1^{Tg(Thy1-CHMP2B*)1Rene}/Atp2b1⁺
• Genetic Background: involves: C57BL/6 * DBA/2 * FVB/N

mortality/aging

premature death ( J:237873 )

• median survival of 21.3 months compared to 26 months in wild-type

growth/size/body

weight loss ( J:237873 )

• mice begin to lose weight at 17 months of age

behavior/neurological

increased food intake ( J:237873 )

• mice eat more and spend more time visiting food pellets at 12 months of age than controls

decreased anxiety-related response ( J:237873 )

• at 12 months of age, mice spend more time in the center of the open field

tremors ( J:237873 )

• mice progressively develop tremors and twitches after 10 months of age

impaired coordination ( J:237873 )

• after 10 months of age, mice show a progressive reduction in capacity to stay on the rotarod

jerky movement ( J:237873 )

• mice progressively develop twitches after 10 months of age

weakness ( J:237873 )

• muscle strength is reduced at 18-20 months of age

paralysis ( J:237873 )

• paralysis occurs at 18-20 months of age

muscle

abnormal muscle electrophysiology ( J:237873 )

• electromyography of resting activity in the gastrocnemius muscle shows abnormal spontaneous activity with fibrillation potentials when paralysis occurs and numerous fasciculations are seen, suggesting muscle denervation

muscle fasciculation ( J:237873 )

• electromyography of resting activity in the gastrocnemius muscles shows numerous fasciculations

nervous system

gliosis ( J:237873 )

• mice show a progressive age-dependent reactive gliosis

astrocytosis ( J:237873 )

• 12 month old mice exhibit astrogliosis in the cortex and spinal cord

abnormal neuromuscular synapse morphology ( J:237873 )

• number of denervated or partially denervated neuromuscular junctions is 40% higher at 12 months than in wild-type littermates

• at end-state (20-24 months) when mice exhibit hindlimb paralysis, only 16% of neuromuscular junctions are fully innervated

• morphology of acetylcholine receptor clusters of postsynaptic endplates is altered in 12 month old mice, with the classical pretzel-like shape of acetylcholine receptor clusters being less complex and more fragmented

neuronal cytoplasmic inclusions ( J:237873 )

• mice develop age-dependent cytoplasmic inclusions immunoreactive for p62 and ubiquitin

abnormal sciatic nerve morphology ( J:237873 )

• the proportion of large myelinated axons in the sciatic nerve is decreased while the number of small caliber myelinated axons is increased

• however, mice show normal numbers of motor neurons in the ventral horn of the spinal cord

cellular

gliosis ( J:237873 )

• mice show a progressive age-dependent reactive gliosis

astrocytosis ( J:237873 )

• 12 month old mice exhibit astrogliosis in the cortex and spinal cord

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
frontotemporal dementia		DOID:9255		J:237873
frontotemporal dementia and/or amyotrophic lateral sclerosis 7		DOID:0111227	OMIM:600795	J:237873

Genotype
MGI:3051593

cx3

• Allelic Composition: Atp2b1^tm1Ges/Atp2b1⁺; Atp2b4^tm1Ges/Atp2b4^tm1Ges
• Genetic Background: Black Swiss

muscle

decreased vasoconstriction ( J:91844 )

• portal vein contractility is reduced and increased apoptosis is seen smooth muscle cells surrounding the portal vein after 4 hours in culture compared to wild-type mice

• Background Sensitivity: this phenotype is not as severe as for Atp2b4^tm1Ges homozygotes on a mixed 129/SvJ and Black Swiss background

cardiovascular system

decreased vasoconstriction ( J:91844 )

• portal vein contractility is reduced and increased apoptosis is seen smooth muscle cells surrounding the portal vein after 4 hours in culture compared to wild-type mice

• Background Sensitivity: this phenotype is not as severe as for Atp2b4^tm1Ges homozygotes on a mixed 129/SvJ and Black Swiss background