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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 (22 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
• however, only 16% existed at P7 and none survived past 6-7 weeks

craniofacial
• teeth were formed but did not erupt

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

limbs/digits/tail
• radiographs of the tibias revealed that the shortened bones lacked a marrow cavity

skeleton
• teeth were formed but did not erupt
• numerous abnormally elongated osteoclasts were present in the bones of mutant mice
• electron microscopy of revealed only rudimentary ruffled border membranes
• osteoclasts were present in normal numbers but failed to resorb bone
• radiographs of the tibias revealed that the shortened bones lacked a marrow cavity
• an increase in the number of osteoblasts were observed due to the enlarged surface of osteopetrotic bones
• the ratio of total bone volume to trabecular volume was increased about 7-fold in mutants mice at day P42
• subtle changes in bone morphology were observable at E16 at sites of beginning mineralization

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

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

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

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/18/2017
MGI 6.08
The Jackson Laboratory