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Phenotypes Associated with This Genotype
Genotype
MGI:2680797
Allelic
Composition
Clcn7tm1Tjj/Clcn7tm1Tjj
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn7tm1Tjj mutation (0 available); any Clcn7 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• from mating between heterozygous animals, the full 25% of mutant embryos were observed at E18 (J:67273)
• however, only 16% existed at P7 and none survived past 6-7 weeks (J:67273)
• from mating between heterozygous animals, the full 25% of mutant embryos were observed at E18 (J:67273)
• however, only 16% existed at P7 and none survived past 6-7 weeks (J:67273)

craniofacial
• teeth were formed but did not erupt (J:67273)
• teeth were formed but did not erupt (J:67273)

growth/size/body
• mice were described as having dysmorphic heads (J:67273)
• mice were described as having dysmorphic heads (J:67273)
• teeth were formed but did not erupt (J:67273)
• teeth were formed but did not erupt (J:67273)
• mice were smaller than littermates (J:67273)
• growth retardation became apparent during the second postnatal week and could not be prevent by feeding a liquid diet (J:67273)
• mice were smaller than littermates (J:67273)
• growth retardation became apparent during the second postnatal week and could not be prevent by feeding a liquid diet (J:67273)

limbs/digits/tail
• radiographs of the tibias revealed that the shortened bones lacked a marrow cavity (J:67273)
• radiographs of the tibias revealed that the shortened bones lacked a marrow cavity (J:67273)

skeleton
• numerous abnormally elongated osteoclasts were present in the bones of mutant mice (J:67273)
• electron microscopy of revealed only rudimentary ruffled border membranes (J:67273)
• numerous abnormally elongated osteoclasts were present in the bones of mutant mice (J:67273)
• electron microscopy of revealed only rudimentary ruffled border membranes (J:67273)
• osteoclasts were present in normal numbers but failed to resorb bone (J:67273)
• osteoclasts were present in normal numbers but failed to resorb bone (J:67273)
• radiographs of the tibias revealed that the shortened bones lacked a marrow cavity (J:67273)
• radiographs of the tibias revealed that the shortened bones lacked a marrow cavity (J:67273)
• an increase in the number of osteoblasts were observed due to the enlarged surface of osteopetrotic bones (J:67273)
• an increase in the number of osteoblasts were observed due to the enlarged surface of osteopetrotic bones (J:67273)
• the ratio of total bone volume to trabecular volume was increased about 7-fold in mutants mice at day P42 (J:67273)
• the ratio of total bone volume to trabecular volume was increased about 7-fold in mutants mice at day P42 (J:67273)
• subtle changes in bone morphology were observable at E16 at sites of beginning mineralization (J:67273)
• subtle changes in bone morphology were observable at E16 at sites of beginning mineralization (J:67273)

vision/eye
• optic nerve degeneration noted as beginning at P14 (J:67273)
• ganglion cells were only mildly reduced at P28, suggesting that degeneration of the optic nerve and the retina are independent events (J:67273)
• optic nerve degeneration noted as beginning at P14 (J:67273)
• ganglion cells were only mildly reduced at P28, suggesting that degeneration of the optic nerve and the retina are independent events (J:67273)
• severe degeneration of photoreceptors beginning around P15 (J:67273)
• only a few photoreceptor cells remained at P28 (J:67273)
• severe degeneration of photoreceptors beginning around P15 (J:67273)
• only a few photoreceptor cells remained at P28 (J:67273)

hematopoietic system
• numerous abnormally elongated osteoclasts were present in the bones of mutant mice (J:67273)
• electron microscopy of revealed only rudimentary ruffled border membranes (J:67273)
• numerous abnormally elongated osteoclasts were present in the bones of mutant mice (J:67273)
• electron microscopy of revealed only rudimentary ruffled border membranes (J:67273)
• osteoclasts were present in normal numbers but failed to resorb bone (J:67273)
• osteoclasts were present in normal numbers but failed to resorb bone (J:67273)

immune system
• numerous abnormally elongated osteoclasts were present in the bones of mutant mice (J:67273)
• electron microscopy of revealed only rudimentary ruffled border membranes (J:67273)
• numerous abnormally elongated osteoclasts were present in the bones of mutant mice (J:67273)
• electron microscopy of revealed only rudimentary ruffled border membranes (J:67273)
• osteoclasts were present in normal numbers but failed to resorb bone (J:67273)
• osteoclasts were present in normal numbers but failed to resorb bone (J:67273)

nervous system
• optic nerve degeneration noted as beginning at P14 (J:67273)
• ganglion cells were only mildly reduced at P28, suggesting that degeneration of the optic nerve and the retina are independent events (J:67273)
• optic nerve degeneration noted as beginning at P14 (J:67273)
• ganglion cells were only mildly reduced at P28, suggesting that degeneration of the optic nerve and the retina are independent events (J:67273)

Mouse Models of Human Disease
OMIM ID Ref(s)
Osteopetrosis, Autosomal Recessive 4; OPTB4 611490 J:67273


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory