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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Galnt3tcal
Familial Tumoural Calcinosis
MGI:5435287
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Galnt3tcal/Galnt3tcal involves: C3H * C57BL/6J MGI:5435288


Genotype
MGI:5435288
hm1
Allelic
Composition
Galnt3tcal/Galnt3tcal
Genetic
Background
involves: C3H * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Galnt3tcal mutation (1 available); any Galnt3 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Ectopic calcifications, testicular abnormalities, and increased apoptosis in Galnt3tcal/Galnt3tcal mice

muscle
• ectopic calcification in cutaneous striated muscle

integument
• ectopic calcification in the skin

cellular
• marked reduction of spermatozoa
• increased apoptosis of interstitial cells of the renal medulla

reproductive system
• marked reduction of spermatozoa
• disorganized seminiferous tubules
• marked reduction of Sertoli cell number
• increased apoptosis in the lumen and periphery of seminiferous tubules, likely involving spermatozoa, and Sertoli cells or spermatocytes, respectively
• breeding of affected males with wild-type C3H females failed to yield any pregnancies, suggesting male infertility
• in contrast, female mice are fertile

skeleton
• at 12 weeks of age
• significantly increased in the tibiae

renal/urinary system
• increased apoptosis of interstitial cells of the renal medulla
• ectopic calcification in the kidney

cardiovascular system
• ectopic calcification in the testicular artery
• ectopic calcification in the aorta
• ectopic calcification in the heart

digestive/alimentary system
• ectopic calcification in the tongue submucosa

homeostasis/metabolism
• elevated plasma phosphate concentrations
• reduced plasma concentrations of intact Fgf23
• calcinosis in soft tissues adjacent to the knee, elbow and shoulder
• elevated plasma levels of 1,25-dihydroxy vitamin D
• reduced plasma alkaline phosphatase activity

craniofacial
• ectopic calcification in the tongue submucosa

endocrine/exocrine glands
• disorganized seminiferous tubules
• marked reduction of Sertoli cell number
• increased apoptosis in the lumen and periphery of seminiferous tubules, likely involving spermatozoa, and Sertoli cells or spermatocytes, respectively

growth/size/body
• 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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/15/2017
MGI 6.10
The Jackson Laboratory