All Phenotypes Ca2<n> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Ca2ⁿ
null
MGI:2135646

Summary

5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ca2ⁿ/Ca2ⁿ	involves: C57BL/6J * DBA/2J	MGI:2175729
hm2	Ca2ⁿ/Ca2ⁿ	involves: DBA/2J	MGI:3783408
cx3	Ca2ⁿ/Ca2ⁿ Ca7^tm1.1Kkai/Ca7^tm1.1Kkai	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2J	MGI:5543611
cx4	Ca2ⁿ/Ca2ⁿ Ca9^tm1Spas/Ca9^tm1Spas	involves: C57BL/6J * DBA/2J	MGI:3784571
cx5	Ca2ⁿ/Ca2ⁿ Ca9^tm1Spas/Ca9⁺	involves: C57BL/6J * DBA/2J	MGI:3784572

Allelic Composition	Ca2ⁿ/Ca2ⁿ
Genetic Background	involves: C57BL/6J * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ca2ⁿ mutation (1 available); any Ca2 mutation (22 available)

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

Morphological changes in the stomach and intestine of Ca2ⁿ/Ca2ⁿ and Ca9^tm1Spas/Ca9^tm1Spas mice

renal/urinary system

renal tubular acidosis ( J:19268 )

• urine has a more alkaline pH than wild-type when given tap water to drink

respiratory system

respiratory acidosis ( J:102478 )

• respiratory acidosis

growth/size/body

gastric cyst ( J:102478 )

• 13% of mutants exhibit gastric cysts

postnatal growth retardation ( J:19268 )

• smaller than controls starting not later than at 2 weeks of age

homeostasis/metabolism

decreased circulating bicarbonate level ( J:19268 )

renal tubular acidosis ( J:19268 )

• urine has a more alkaline pH than wild-type when given tap water to drink

respiratory acidosis ( J:102478 )

• respiratory acidosis

skeleton

skeleton phenotype ( J:19268 )

N	• the prominent osteopetrosis found in humans with carbonic anhydrase II deficiency syndrome could not be detected in mice aged up to 15 months

digestive/alimentary system

abnormal duodenum morphology ( J:102478 )

• some mutants exhibit intraepithelial lymphocytes in the duodenum

stomach epithelial hyperplasia ( J:102478 )

• 50% of mutants exhibit mild gastric pit-cell hyperplasia

gastric cyst ( J:102478 )

• 13% of mutants exhibit gastric cysts

abnormal digestive system physiology ( J:102478 )

• bicarbonate secretory response of the duodenum to prostaglandin E2 (PGE2) is completely absent in mutants, however basal duodenal bicarbonate secretion is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive osteopetrosis 3		DOID:0110941	OMIM:259730	J:19268

Allelic Composition	Ca2ⁿ/Ca2ⁿ
Genetic Background	involves: DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ca2ⁿ mutation (1 available); any Ca2 mutation (22 available)

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

reproductive system

dilated rete testis ( J:125658 )

• rete testis dilated compared to wild-type, with equal or greater volume compared to Esr1-null mice

dilated efferent ductule of testis ( J:125658 )

• ductules dilated compared to wild-type, with equal or greater volume compared to Esr1-null mice

reduced male fertility ( J:125658 )

• fertility is reduced with aging

endocrine/exocrine glands

dilated rete testis ( J:125658 )

• rete testis dilated compared to wild-type, with equal or greater volume compared to Esr1-null mice

Allelic Composition	Ca2ⁿ/Ca2ⁿ Ca7^tm1.1Kkai/Ca7^tm1.1Kkai
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ca2ⁿ mutation (1 available); any Ca2 mutation (22 available)
Ca7^tm1.1Kkai mutation (0 available); any Ca7 mutation (21 available)

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

nervous system

abnormal GABA-mediated receptor currents ( J:200079 )

• dendritic GABA-evoked depolarization is smaller in neurons from >P35 compared with wild-type neurons

Allelic Composition	Ca2ⁿ/Ca2ⁿ Ca9^tm1Spas/Ca9^tm1Spas
Genetic Background	involves: C57BL/6J * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ca2ⁿ mutation (1 available); any Ca2 mutation (22 available)
Ca9^tm1Spas mutation (1 available); any Ca9 mutation (48 available)

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:102478 )

• only one of 10 expected mice is born

digestive/alimentary system

abnormal small intestine crypts of Lieberkuhn morphology ( J:102478 )

• enlarged crypts of the small intestine

stomach epithelial hyperplasia ( J:102478 )

• mild pit-cell hyperplasia of the stomach

endocrine/exocrine glands

abnormal small intestine crypts of Lieberkuhn morphology ( J:102478 )

• enlarged crypts of the small intestine

Allelic Composition	Ca2ⁿ/Ca2ⁿ Ca9^tm1Spas/Ca9⁺
Genetic Background	involves: C57BL/6J * DBA/2J

Find Mice

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

digestive/alimentary system

abnormal duodenum morphology ( J:102478 )

• some mutants exhibit intraepithelial lymphocytes in the duodenum

gastric gland atrophy ( J:102478 )

• 13% of mutants have mild glandular atrophy

stomach epithelial hyperplasia ( J:102478 )

• 50% of mutants have mild pit-cell hyperplasia

gastric cyst ( J:102478 )

• 50% of mutants have gastric cysts

abnormal digestive system physiology ( J:102478 )

• bicarbonate secretory response of the duodenum to prostaglandin E2 (PGE2) is completely absent in mutants

endocrine/exocrine glands

gastric gland atrophy ( J:102478 )

• 13% of mutants have mild glandular atrophy

growth/size/body

gastric cyst ( J:102478 )

• 50% of mutants have gastric cysts

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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