Phenotypes Associated with This Genotype

Genotype
MGI:5435288

• Allelic Composition: Galnt3^tcal/Galnt3^tcal
• Genetic Background: involves: C3H * C57BL/6J

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

Ectopic calcifications, testicular abnormalities, and increased apoptosis in Galnt3^tcal/Galnt3^tcal mice

muscle

calcified muscle ( J:187064 )

• ectopic calcification in cutaneous striated muscle

integument

calcified skin ( J:187064 )

• ectopic calcification in the skin

cellular

oligozoospermia ( J:187064 )

♂ • marked reduction of spermatozoa

increased kidney apoptosis ( J:187064 )

• increased apoptosis of interstitial cells of the renal medulla

increased testis apoptosis ( J:187064 )

♂ • increased apoptosis in the lumen and periphery of seminiferous tubules, likely involving spermatozoa, and Sertoli cells or spermatocytes, respectively

reproductive system

oligozoospermia ( J:187064 )

♂ • marked reduction of spermatozoa

increased testis apoptosis ( J:187064 )

♂ • increased apoptosis in the lumen and periphery of seminiferous tubules, likely involving spermatozoa, and Sertoli cells or spermatocytes, respectively

abnormal seminiferous tubule morphology ( J:187064 )

♂ • disorganized seminiferous tubules

decreased Sertoli cell number ( J:187064 )

♂ • marked reduction of Sertoli cell number

male infertility ( J:187064 )

♂ • breeding of affected males with wild-type C3H females failed to yield any pregnancies, suggesting male infertility

♂ • in contrast, female mice are fertile

skeleton

increased bone mineral density ( J:187064 )

• at 12 weeks of age

increased compact bone volume ( J:187064 )

• significantly increased in the tibiae

increased bone trabecula number ( J:187064 )

• in tibae

renal/urinary system

increased kidney apoptosis ( J:187064 )

• increased apoptosis of interstitial cells of the renal medulla

nephrocalcinosis ( J:187064 )

• ectopic calcification in the kidney

cardiovascular system

calcified aorta ( J:187064 )

• ectopic calcification in the aorta

calcified testicular artery ( J:187064 )

• ectopic calcification in the testicular artery

dystrophic cardiac calcinosis ( J:187064 )

• ectopic calcification in the heart

digestive/alimentary system

abnormal tongue morphology ( J:187064 )

• ectopic calcification in the tongue submucosa

homeostasis/metabolism

increased circulating phosphate level ( J:187064 )

• elevated plasma phosphate concentrations

abnormal circulating protein level ( J:187064 )

• reduced plasma concentrations of intact Fgf23

calcinosis ( J:187064 )

• calcinosis in soft tissues adjacent to the knee, elbow and shoulder

increased vitamin D level ( J:187064 )

• elevated plasma levels of 1,25-dihydroxy vitamin D

decreased alkaline phosphatase activity ( J:187064 )

• reduced plasma alkaline phosphatase activity

craniofacial

abnormal tongue morphology ( J:187064 )

• ectopic calcification in the tongue submucosa

endocrine/exocrine glands

increased testis apoptosis ( J:187064 )

♂ • increased apoptosis in the lumen and periphery of seminiferous tubules, likely involving spermatozoa, and Sertoli cells or spermatocytes, respectively

abnormal seminiferous tubule morphology ( J:187064 )

♂ • disorganized seminiferous tubules

decreased Sertoli cell number ( J:187064 )

♂ • marked reduction of Sertoli cell number

growth/size/body

abnormal tongue morphology ( J:187064 )

• ectopic calcification in the tongue submucosa

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperphosphatemic familial tumoral calcinosis		DOID:0111063	OMIM:211900	J:187064