Phenotypes Associated with This Genotype

Genotype
MGI:5903847

• Allelic Composition: Kl^ecalc2/Kl^ecalc2
• Genetic Background: involves: C3H/HeH * C57BL/6J

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

mortality/aging

premature death ( J:229255 )

• affected mice are not viable beyond 5 weeks of age and have to be culled before puberty due to poor health

growth/size/body

decreased body size ( J:229255 )

• affected mice are smaller at 3 weeks of age

• generalized reduction of soft tissue mass

postnatal growth retardation ( J:229255 )

behavior/neurological

absent pinna reflex ( J:229255 )

• all affected mice exhibit a negative Preyer reflex, indicating a hearing deficit

hunched posture ( J:229255 )

• hunched posture at 3 weeks of age

homeostasis/metabolism

calcinosis ( J:229255 )

• widespread ectopic calcification

hearing/vestibular/ear

impaired hearing ( J:229255 )

skeleton

thick zygomatic arch ( J:229255 )

• thickened zygomatic arches

abnormal femur morphology ( J:229255 )

• shortened and radiolucent femora with cortical thinning

decreased femur compact bone thickness ( J:229255 )

short femur ( J:229255 )

wide ribs ( J:229255 )

• irregular widened ribs

kyphoscoliosis ( J:229255 )

craniofacial

thick zygomatic arch ( J:229255 )

• thickened zygomatic arches

limbs/digits/tail

abnormal femur morphology ( J:229255 )

• shortened and radiolucent femora with cortical thinning

decreased femur compact bone thickness ( J:229255 )

short femur ( J:229255 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperphosphatemic familial tumoral calcinosis		DOID:0111063	OMIM:211900	J:229255