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Phenotypes Associated with This Genotype
Genotype
MGI:5435288
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 (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

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

reproductive system
• disorganized (J:187064)
• increased apoptosis in both the lumen and the periphery (J:187064)
• disorganized (J:187064)
• increased apoptosis in both the lumen and the periphery (J:187064)
• reduced in number (J:187064)
• reduced in number (J:187064)
(J:187064)
(J:187064)

skeleton
• at 12 weeks of age (J:187064)
• at 12 weeks of age (J:187064)
• significantly increased in the tibiae (J:187064)
• significantly increased in the tibiae (J:187064)
• in tibae (J:187064)
• in tibae (J:187064)

renal/urinary system
• ectopic calcification in the kidney (J:187064)
• ectopic calcification in the kidney (J:187064)
• increased apoptosis of interstitial cells of the renal medulla (J:187064)
• increased apoptosis of interstitial cells of the renal medulla (J:187064)

integument
• ectopic calcification in cutaneous striated muscle (J:187064)
• ectopic calcification in cutaneous striated muscle (J:187064)

cardiovascular system
• ectopic calcification of the testicular artery (J:187064)
• ectopic calcification of the testicular artery (J:187064)
• ectopic calcification in the aorta (J:187064)
• ectopic calcification in the aorta (J:187064)
• ectopic calcification in the heart (J:187064)
• ectopic calcification in the heart (J:187064)

digestive/alimentary system
• ectopic calcification of the tongue (J:187064)
• ectopic calcification of the tongue (J:187064)

homeostasis/metabolism
• elevated plasma phosphate (J:187064)
• elevated plasma phosphate (J:187064)
• in the soft tissue of the knee, elbow, and shoulder (J:187064)
• in the soft tissue of the knee, elbow, and shoulder (J:187064)
• elevated plasma levels of 1,25-dihydroxy vitamin D (J:187064)
• elevated plasma levels of 1,25-dihydroxy vitamin D (J:187064)

craniofacial
• ectopic calcification of the tongue (J:187064)
• ectopic calcification of the tongue (J:187064)

endocrine/exocrine glands
• disorganized (J:187064)
• increased apoptosis in both the lumen and the periphery (J:187064)
• disorganized (J:187064)
• increased apoptosis in both the lumen and the periphery (J:187064)
• reduced in number (J:187064)
• reduced in number (J:187064)

growth/size/body
• ectopic calcification of the tongue (J:187064)
• ectopic calcification of the tongue (J:187064)

Mouse Models of Human Disease
OMIM ID Ref(s)
Tumoral Calcinosis, Hyperphosphatemic, Familial; HFTC 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
02/02/2016
MGI 6.02
The Jackson Laboratory