About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5903776
Allelic
Composition
Klecalc1/Klecalc1
Genetic
Background
involves: C3H/HeH * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Klecalc1 mutation (0 available); any Kl mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• necrotic regions within the renal parenchyma esp. around calcification foci

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

growth/size/body
• affected mice are smaller at 3 weeks of age
• generalized reduction of soft tissue mass

behavior/neurological
• all affected mice exhibit a negative Preyer reflex, indicating a hearing deficit
• hunched posture at 3 weeks of age

homeostasis/metabolism
• at ~5 weeks of age, female mice show significantly lower plasma glucose concentrations than wild-type females
• significantly increased plasma concentrations of phosphate in both sexes at ~5 weeks of age
• however, plasma calcium concentrations are normal
• significantly increased plasma intact FGF23 (fibroblast growth factor 23) concentrations in both sexes, with values above the upper limit of assay detection
• at ~5 weeks of age, male mice show significantly lower plasma albumin concentrations than wild-type males
• widespread ectopic calcification at 5 weeks of age
• 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
• significantly increased alkaline phosphatase activity in both sexes at ~5 weeks of age

hearing/vestibular/ear
• thickening (sclerosis) and calcification of the auditory ossicles at 5 weeks of age
• ectopic calcification in the incus at 5 weeks of age
• ectopic calcification in the malleus at 5 weeks of age
• shortening and thickening of the manubrium at 5 weeks of age
• at 5 weeks of age
• shorter malleus at 5 weeks of age
• reduction in size of the foramina between the crura in the stapes at 5 weeks of age

skeleton
• thickened, widened zygomatic arches
• thickening (sclerosis) and calcification of the auditory ossicles at 5 weeks of age
• ectopic calcification in the incus at 5 weeks of age
• ectopic calcification in the malleus at 5 weeks of age
• shortening and thickening of the manubrium at 5 weeks of age
• at 5 weeks of age
• shorter malleus at 5 weeks of age
• reduction in size of the foramina between the crura in the stapes at 5 weeks of age
• shortened and radiolucent femora with cortical thinning
• ~45% reduction in the width of the proliferative epiphyseal zones in the proximal tibiae at 5 weeks of age
• ~45% reduction in the width of the hypertrophic epiphyseal zones in the proximal tibiae at 5 weeks of age
• narrowing of the growth plate region in the proximal tibiae at 5 weeks of age
• sclerotic ribs at 5 weeks of age
• irregular widened ribs
• flattened vertebra at 5 weeks of age
• DXA analysis of femora revealed a significant reduction in bone mineral content in both sexes at 5 weeks of age
• 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
• reduced subcutaneous fat thickness at 5 weeks of age
• reduced epidermal thickness at 5 weeks of age
• skin calcification leading to reduced thickness of the epidermal and subcutaneous fat skin layers
• skin atrophy at 5 weeks of age

cardiovascular system
• extensive aortic calcification leading to an irregular aortic lumen with widening of the medial and adventitial wall layers
• patchy opacifications within the aorta
• extensive aortic calcification leading to vessel occlusion at 5 weeks of age

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

renal/urinary system
• necrotic regions within the renal parenchyma esp. around calcification foci
• vascular and parenchymal renal calcification at 5 weeks of age

craniofacial
• thickened, widened zygomatic arches
• thickening (sclerosis) and calcification of the auditory ossicles at 5 weeks of age
• ectopic calcification in the incus at 5 weeks of age
• ectopic calcification in the malleus at 5 weeks of age
• shortening and thickening of the manubrium at 5 weeks of age
• at 5 weeks of age
• shorter malleus at 5 weeks of age
• reduction in size of the foramina between the crura in the stapes at 5 weeks of age

adipose tissue
• reduced subcutaneous fat thickness at 5 weeks of age

limbs/digits/tail
• shortened and radiolucent femora with cortical thinning

immune system

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
05/21/2024
MGI 6.23
The Jackson Laboratory