Mouse Genome Informatics
hm
    Clcn7tm1Tjj/Clcn7tm1Tjj
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• 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

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