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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tcirg1tm1Ypl
targeted mutation 1, Yi Ping Li
MGI:1857950
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tcirg1tm1Ypl/Tcirg1tm1Ypl involves: 129S4/SvJae * C57BL/6J MGI:2174763


Genotype
MGI:2174763
hm1
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





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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory