About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2174763
Allelic
Composition
Tcirg1tm1Ypl/Tcirg1tm1Ypl
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tcirg1tm1Ypl mutation (0 available); any Tcirg1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Snx10tm1a(EUCOMM)Raba/Snx10tm1a(EUCOMM)Raba and Tcirg1tm1Ypl/Tcirg1tm1Ypl mice show osteopetrorickets

mortality/aging
• die by 5 weeks of age; survival to 12 weeks when fed with milk of foster mothers

homeostasis/metabolism
• lower 1,25-dihydroxyvitamin D levels

growth/size/body
• 70% reduced weight at 23 days of age when compared to littermates

craniofacial

limbs/digits/tail

skeleton
• loss of extracellular acidification function
• metaphyseal fraying and cupping
• narrow; 80% reduced space compared to controls
• thin and fragile
• lack cortical bone
• non-mineralized condyles and articulations
• mice exhibit metaphyseal fraying and cupping indicative of rickets superimposed on osteopetrosis or "osteopetrorickets"

immune system
• loss of extracellular acidification function

hematopoietic system
• loss of extracellular acidification function

Mouse Models of Human Disease
OMIM ID Ref(s)
Osteopetrosis, Autosomal Recessive 1; OPTB1 259700 J:58795


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/24/2016
MGI 6.04
The Jackson Laboratory