Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn7tm2Tjj mutation
(0 available);
any
Clcn7 mutation
(40 available)
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homeostasis/metabolism
nervous system
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• appearing first in the hippocampus and then spreading over the cortex
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• appearing first in the hippocampus and then spreading over the cortex
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cellular
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• brain and kidney lysates exhibit an increase in the LC3-II (Map1lc3a) form indicating increased autophagy unlike in wild-type extracts
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• mice exhibit a lysosomal storage phenotype in the forebrain with altered Lamp-1 distribution compared to in wild-type mice
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renal/urinary system
immune system
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• appearing first in the hippocampus and then spreading over the cortex
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hematopoietic system
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• appearing first in the hippocampus and then spreading over the cortex
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|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn7tm2Tjj mutation
(0 available);
any
Clcn7 mutation
(40 available)
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mortality/aging
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• 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
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growth/size/body
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• mice were described as having dysmorphic heads
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• teeth were formed but did not erupt
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• mice were smaller than littermates
• growth retardation became apparent during the second postnatal week and could not be prevent by feeding a liquid diet
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skeleton
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• teeth were formed but did not erupt
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• numerous abnormally elongated osteoclasts were present in the bones of mutant mice
(J:67273)
• electron microscopy revealed only rudimentary ruffled border membranes
(J:67273)
• 20% of osteoclasts completely lack a ruffled border, and only ~40% show a mature ruffled border, similar to what is observed in Clcn7tm5.1Tjj homozygotes
(J:217031)
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• osteoclasts were present in normal numbers but failed to resorb bone
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• radiographs of the tibias revealed that the shortened bones lacked a marrow cavity
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• mice show increased bone volume fraction of proximal tibia metaphyseal trabecular bone, similar to that observed in Clcn7tm5.1Tjj homozygotes
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• an increase in the number of osteoblasts were observed due to the enlarged surface of osteopetrotic bones
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• the ratio of total bone volume to trabecular volume was increased about 7-fold in mutants mice at day P42
(J:67273)
• at 3 weeks of age, mice exhibit severe osteopetrosis (of tibiae), similar to that observed in Clcn7tm5.1Tjj homozygotes
(J:217031)
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• subtle changes in bone morphology were observable at E16 at sites of beginning mineralization
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limbs/digits/tail
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• radiographs of the tibias revealed that the shortened bones lacked a marrow cavity
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craniofacial
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• teeth were formed but did not erupt
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pigmentation
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• mice display gray fur on an agouti background
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• pheomelanin granules are clumped and reduced in the yellow band, whereas eumelanin granules are unchanged in the dark hair shafts
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vision/eye
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• 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
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• severe degeneration of photoreceptors beginning around P15
(J:67273)
• only a few photoreceptor cells remained at P28
(J:67273)
• at 4 weeks of age, mice exhibit degeneration of photoreceptor cells in the outer nuclear layer (ONL) and outer and inner segment, unlike wild-type controls or Clcn7tm5.1Tjj homozygotes
(J:217031)
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nervous system
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• 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
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cellular
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• at 3 weeks of age, the autophagic marker LC3-II is significantly increased in the brain, unlike in wild-type controls or Clcn7tm5.1Tjj homozygotes
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homeostasis/metabolism
hematopoietic system
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• numerous abnormally elongated osteoclasts were present in the bones of mutant mice
(J:67273)
• electron microscopy revealed only rudimentary ruffled border membranes
(J:67273)
• 20% of osteoclasts completely lack a ruffled border, and only ~40% show a mature ruffled border, similar to what is observed in Clcn7tm5.1Tjj homozygotes
(J:217031)
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• osteoclasts were present in normal numbers but failed to resorb bone
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immune system
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• numerous abnormally elongated osteoclasts were present in the bones of mutant mice
(J:67273)
• electron microscopy revealed only rudimentary ruffled border membranes
(J:67273)
• 20% of osteoclasts completely lack a ruffled border, and only ~40% show a mature ruffled border, similar to what is observed in Clcn7tm5.1Tjj homozygotes
(J:217031)
|
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• osteoclasts were present in normal numbers but failed to resorb bone
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integument
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• mice display gray fur on an agouti background
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• pheomelanin granules are clumped and reduced in the yellow band, whereas eumelanin granules are unchanged in the dark hair shafts
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