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Phenotypes Associated with This Genotype
Genotype
MGI:5903847
Allelic
Composition
Klecalc2/Klecalc2
Genetic
Background
involves: C3H/HeH * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Klecalc2 mutation (0 available); any Kl mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• widespread ectopic calcification

hearing/vestibular/ear

skeleton
• thickened zygomatic arches
• shortened and radiolucent femora with cortical thinning
• irregular widened ribs

craniofacial
• thickened zygomatic arches

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

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)
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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory