Phenotypes associated with this allele

• Allele Symbol: Kl^ecalc1
• Allele Name: ectopic calcification 1
• Allele ID: MGI:5763757
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kl^ecalc1/Kl^ecalc1	involves: C3H/HeH * C57BL/6J	MGI:5903776

Genotype
MGI:5903776

hm1

• Allelic Composition: Kl^ecalc1/Kl^ecalc1
• 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

decreased circulating glucose level ( J:229255 )

♀ • at ~5 weeks of age, female mice show significantly lower plasma glucose concentrations than wild-type females

increased circulating phosphate level ( J:229255 )

• significantly increased plasma concentrations of phosphate in both sexes at ~5 weeks of age

• however, plasma calcium concentrations are normal

abnormal circulating protein level ( J:229255 )

• significantly increased plasma intact FGF23 (fibroblast growth factor 23) concentrations in both sexes, with values above the upper limit of assay detection

decreased circulating serum albumin level ( J:229255 )

♂ • at ~5 weeks of age, male mice show significantly lower plasma albumin concentrations than wild-type males

calcinosis ( J:229255 )

• widespread ectopic calcification at 5 weeks of age

increased vitamin D level ( J:229255 )

• significantly increased plasma concentrations of 1,25 dihydroxyvitamin D in both sexes, consistent with a 6-fold increase in expression of vitamin D-1alpha-hydroxylase (Cyp27b1) relative to wild-type controls

increased alkaline phosphatase activity ( J:229255 )

• significantly increased alkaline phosphatase activity in both sexes at ~5 weeks of age

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:229255 )

• thickening (sclerosis) and calcification of the auditory ossicles at 5 weeks of age

abnormal incus morphology ( J:229255 )

• ectopic calcification in the incus at 5 weeks of age

abnormal malleus morphology ( J:229255 )

• ectopic calcification in the malleus at 5 weeks of age

abnormal malleus manubrium morphology ( J:229255 )

• shortening and thickening of the manubrium at 5 weeks of age

short malleus manubrium ( J:229255 )

• at 5 weeks of age

short malleus ( J:229255 )

• shorter malleus at 5 weeks of age

small stapes obturator foramen ( J:229255 )

• reduction in size of the foramina between the crura in the stapes at 5 weeks of age

impaired hearing ( J:229255 )

skeleton

thick zygomatic arch ( J:229255 )

• thickened, widened zygomatic arches

abnormal middle ear ossicle morphology ( J:229255 )

• thickening (sclerosis) and calcification of the auditory ossicles at 5 weeks of age

abnormal incus morphology ( J:229255 )

• ectopic calcification in the incus at 5 weeks of age

abnormal malleus morphology ( J:229255 )

• ectopic calcification in the malleus at 5 weeks of age

abnormal malleus manubrium morphology ( J:229255 )

• shortening and thickening of the manubrium at 5 weeks of age

short malleus manubrium ( J:229255 )

• at 5 weeks of age

short malleus ( J:229255 )

• shorter malleus at 5 weeks of age

small stapes obturator foramen ( J:229255 )

• reduction in size of the foramina between the crura in the stapes at 5 weeks of age

abnormal femur morphology ( J:229255 )

• shortened and radiolucent femora with cortical thinning

decreased femur compact bone thickness ( J:229255 )

short femur ( J:229255 )

abnormal long bone epiphyseal plate proliferative zone ( J:229255 )

• ~45% reduction in the width of the proliferative epiphyseal zones in the proximal tibiae at 5 weeks of age

decreased width of hypertrophic chondrocyte zone ( J:229255 )

• ~45% reduction in the width of the hypertrophic epiphyseal zones in the proximal tibiae at 5 weeks of age

decreased long bone epiphyseal plate size ( J:229255 )

• narrowing of the growth plate region in the proximal tibiae at 5 weeks of age

abnormal rib morphology ( J:229255 )

• sclerotic ribs at 5 weeks of age

wide ribs ( J:229255 )

• irregular widened ribs

kyphoscoliosis ( J:229255 )

abnormal vertebrae morphology ( J:229255 )

• flattened vertebra at 5 weeks of age

decreased bone mineral content ( J:229255 )

• DXA analysis of femora revealed a significant reduction in bone mineral content in both sexes at 5 weeks of age

decreased bone mineral density of femur ( J:229255 )

• femora exhibit reduced radiodensity and cortical thickness, consistent with osteopenia

• DXA analysis of femora revealed a significant reduction in bone mineral density in both sexes at 5 weeks of age

integument

decreased subcutaneous adipose tissue amount ( J:229255 )

• reduced subcutaneous fat thickness at 5 weeks of age

thin epidermis ( J:229255 )

• reduced epidermal thickness at 5 weeks of age

calcified skin ( J:229255 )

• skin calcification leading to reduced thickness of the epidermal and subcutaneous fat skin layers

skin atrophy ( J:229255 )

• skin atrophy at 5 weeks of age

cardiovascular system

abnormal aorta wall morphology ( J:229255 )

• extensive aortic calcification leading to an irregular aortic lumen with widening of the medial and adventitial wall layers

calcified aorta ( J:229255 )

• patchy opacifications within the aorta

• extensive aortic calcification leading to vessel occlusion at 5 weeks of age

respiratory system

lung inflammation ( J:229255 )

calcified pulmonary alveolus ( J:229255 )

• regions of dense calcification within the lungs associated with a reduced number of alveoli and inflammatory cell infiltrates at 5 weeks of age

emphysema ( J:229255 )

• pulmonary emphysematous changes at 5 weeks of age

renal/urinary system

nephrocalcinosis ( J:229255 )

• vascular and parenchymal renal calcification at 5 weeks of age

renal necrosis ( J:229255 )

• necrotic regions within the renal parenchyma esp. around calcification foci

craniofacial

thick zygomatic arch ( J:229255 )

• thickened, widened zygomatic arches

abnormal middle ear ossicle morphology ( J:229255 )

• thickening (sclerosis) and calcification of the auditory ossicles at 5 weeks of age

abnormal incus morphology ( J:229255 )

• ectopic calcification in the incus at 5 weeks of age

abnormal malleus morphology ( J:229255 )

• ectopic calcification in the malleus at 5 weeks of age

abnormal malleus manubrium morphology ( J:229255 )

• shortening and thickening of the manubrium at 5 weeks of age

short malleus manubrium ( J:229255 )

• at 5 weeks of age

short malleus ( J:229255 )

• shorter malleus at 5 weeks of age

small stapes obturator foramen ( J:229255 )

• reduction in size of the foramina between the crura in the stapes at 5 weeks of age

adipose tissue

decreased subcutaneous adipose tissue amount ( J:229255 )

• reduced subcutaneous fat thickness at 5 weeks of age

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 )

immune system

lung inflammation ( J:229255 )

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