Phenotypes Associated with This Genotype

Genotype
MGI:4355581

• Allelic Composition: Galnt3^tm1Mjec/Galnt3^tm1Mjec
• Genetic Background: involves: 129S/SvEv * C57BL/6J

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

reproductive system

oligozoospermia ( J:151805 )

♂ • seminiferous tubules contain less spermatozoa than in wild-type mice

teratozoospermia ( J:151805 )

♂

small seminiferous tubules ( J:151805 )

♂ • narrow

male infertility ( J:151805 )

♂

homeostasis/metabolism

decreased circulating parathyroid hormone level ( J:151805 )

• at 12 weeks

increased circulating calcium level ( J:151805 )

• at 6 weeks

increased circulating phosphate level ( J:151805 )

• at 3, 6, and 12 weeks

decreased circulating alkaline phosphatase level ( J:151805 )

• at 3, 6, and 12 weeks

abnormal vitamin D level ( J:151805 )

• at 24 weeks, 1,25-dihydroxyvitamin D levels are inappropriately normal in the face of predicted hyperposphatemia

skeleton

abnormal femur morphology ( J:151805 )

• denser than normal by ex vivo radiography in male mice

increased bone mineral density ( J:151805 )

• in males but not females

growth/size/body

postnatal growth retardation ( J:151805 )

• in males but not females

limbs/digits/tail

abnormal femur morphology ( J:151805 )

• denser than normal by ex vivo radiography in male mice

endocrine/exocrine glands

small seminiferous tubules ( J:151805 )

♂ • narrow

cellular

oligozoospermia ( J:151805 )

♂ • seminiferous tubules contain less spermatozoa than in wild-type mice

teratozoospermia ( J:151805 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperphosphatemic familial tumoral calcinosis		DOID:0111063	OMIM:211900	J:151805