Phenotypes Associated with This Genotype

Genotype
MGI:2175729

• Allelic Composition: Car2ⁿ/Car2ⁿ
• Genetic Background: involves: C57BL/6J * DBA/2J

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

Morphological changes in the stomach and intestine of Car2ⁿ/Car2ⁿ and Car9^tm1Spas/Car9^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