Mouse Genome Informatics
hm
    Gcm2tm1Kry/Gcm2tm1Kry
involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 30% die shortly after birth due to severe hypocalcemia
• lethality of homozygous pups increases considerably when homozygous females are used in matings, indicating that the lethality is of maternal orgin, probably due to low extracellular calcium concentration in females and decreased milk production, as treatment with vitamin D to correct calcium levels, paritally rescues the lethality

endocrine/exocrine glands
• exibit biological hypoparathyroidism as parathyroid glands are absent, however parathyroid hormone serum levels are normal, indicating another source of this hormone

homeostasis/metabolism
• mice with severe hypocalcemia die shortly after birth, while the remaining mice exhibit mild hypocalcemia (J:63291)
• increased calcium elimination in the urine without evidence of renal failure

skeleton
• increased number and thickness of trabeculae
• decreased osteoblast and osteoclast surface

renal/urinary system
• increased calcium elimination in the urine without evidence of renal failure

Mouse Models of Human Disease
OMIM IDRef(s)
Hypoparathyroidism, Familial Isolated; FIH 146200 J:63291