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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Clcn7
chloride channel, voltage-sensitive 7
MGI:1347048
85 phenotypes from 11 alleles in 18 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Clcn7tm1.1Aros/Clcn7tm1.1Aros
involves: 129P2/OlaHsd * C57BL/6N 		decreased body length J:273179
decreased survivor rate J:273179
failure of tooth eruption J:273179
increased bone volume J:273179
osteopetrosis J:273179
Clcn7tm1.1Lex/Clcn7tm1.1Lex
involves: 129S5/SvEvBrd * C57BL/6J 		abnormal cerebral cortex morphology J:186049
abnormal neocortex morphology J:186049
abnormal neuron morphology J:186049
abnormal posture J:186049
abnormal retina pigment epithelium morphology J:186049
abnormal stratification in cerebral cortex J:186049
absent photoreceptor inner segment J:186049
absent photoreceptor outer segment J:186049
astrocytosis J:186049
cerebral cortex pyramidal cell degeneration J:186049
lysosomal protein accumulation J:186049
microgliosis J:186049
neurodegeneration J:186049
postnatal growth retardation J:186049
respiratory failure J:186049
retina degeneration J:186049
normal skeleton phenotype J:186049
thin retina inner nuclear layer J:186049
thin retina outer nuclear layer J:186049
tonic seizures J:186049
tremors J:186049
normal vision/eye phenotype J:186049
Clcn7tm1.1Mawa/Clcn7+
involves: C57BL/6J * C57BL/6N * CD-1 		decreased bone strength J:254787
decreased bone trabecular spacing J:254787
decreased compact bone area J:254787
decreased compact bone thickness J:254787
increased bone mineral density J:254787
increased bone trabecula number J:254787
increased osteoclast cell number J:254787
increased trabecular bone thickness J:254787
increased trabecular bone volume J:254787
osteopetrosis J:254787
Clcn7tm1.1Mawa/Clcn7tm1.1Mawa
involves: C57BL/6J * C57BL/6N * CD-1 		decreased body size J:254787
failure of tooth eruption J:254787
increased bone mineral density J:254787
premature death J:254787
Clcn7tm1.1Mawa/Clcn7tm1.1Mjec
involves: 129 * C57BL/6J * C57BL/6N * CD-1 		decreased body size J:254787
failure of tooth eruption J:254787
premature death J:254787
Clcn7tm1.1Mjec/Clcn7+
involves: 129 * 129S/SvEv * C57BL/6 		decreased bone trabecular spacing J:203761
increased areal bone mineral density J:203761
increased bone trabecula number J:203761
increased trabecular bone volume J:203761
Clcn7tm1.1Mjec/Clcn7+
involves: 129S/SvEv * BALB/cJ * C57BL/6 		increased bone mineral density J:203761
increased trabecular bone volume J:203761
Clcn7tm1.1Mjec/Clcn7+
involves: 129S/SvEv * C57BL/6 * DBA/2J 		abnormal trabecular bone morphology J:203761
increased bone mineral density J:203761
increased bone trabecula number J:203761
increased circulating alkaline phosphatase level J:203761
increased trabecular bone volume J:203761
Clcn7tm1.1Teti/Clcn7+
involves: 129S2/SvPas * C57BL/6 		abnormal bone marrow morphology J:203761
abnormal osteoclast physiology J:203761
decreased bone resorption J:203761
decreased bone trabecular spacing J:203761
increased areal bone mineral density J:203761
increased bone mass J:203761
increased bone trabecula number J:203761
increased circulating parathyroid hormone level J:203761
increased osteoclast cell number J:203761
increased trabecular bone volume J:203761
normal nervous system phenotype J:203761
osteopetrosis J:203761
Clcn7tm1.1Teti/Clcn7tm1.1Teti
involves: 129S2/SvPas * C57BL/6 		decreased body size J:203761
failure of tooth eruption J:203761
myelofibrosis J:203761
neurodegeneration J:203761
osteopetrosis J:203761
premature death J:203761
Purkinje cell degeneration J:203761
Clcn7tm1.1Teti/Clcn7tm1.1Teti
involves: 129S2/SvPas * CD-1 		decreased body size J:203761
failure of tooth eruption J:203761
osteopetrosis J:203761
premature death J:203761
Clcn7tm1Tjj/Clcn7tm1Tjj
involves: 129P2/OlaHsd * C57BL/6 		abnormal bone marrow cavity morphology J:67273
abnormal bone ossification J:67273
abnormal head morphology J:67273
abnormal osteoclast morphology J:67273
abnormal osteoclast physiology J:67273
decreased body size J:67273
decreased bone resorption J:67273
failure of tooth eruption J:67273
increased osteoblast cell number J:67273
optic nerve degeneration J:67273
osteopetrosis J:67273
postnatal lethality, incomplete penetrance J:67273
retina degeneration J:67273
short limbs J:67273
Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
129(Cg)-Clcn7tm2.1Mjec 		decreased body weight J:240468
increased areal bone mineral density J:240468
increased bone mineral content J:240468
increased bone trabecula number J:240468
increased trabecular bone thickness J:240468
increased trabecular bone volume J:240468
Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
B6.129(Cg)-Clcn7tm2.1Mjec 		increased areal bone mineral density J:240468
increased body weight J:240468
increased bone mineral content J:240468
increased bone trabecula number J:240468
increased trabecular bone volume J:240468
Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
C.129(Cg)-Clcn7tm2.1Mjec 		increased areal bone mineral density J:240468
increased body weight J:240468
increased bone mineral content J:240468
increased bone trabecula number J:240468
increased trabecular bone thickness J:240468
increased trabecular bone volume J:240468
Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
D2.129(Cg)-Clcn7tm2.1Mjec 		decreased body weight J:240468
increased areal bone mineral density J:240468
increased bone mineral content J:240468
increased bone trabecula number J:240468
increased trabecular bone thickness J:240468
increased trabecular bone volume J:240468
Clcn7tm2Tjj/Clcn7tm2Tjj
involves: 129S1/Sv * 129X1/SvJ 		abnormal lysosome physiology J:155176
accumulation of giant lysosomes in kidney/renal tubule cells J:155176
astrocytosis J:155176
enhanced autophagy J:155176
microgliosis J:155176
Clcn7tm2Tjj/Clcn7tm2Tjj
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal autophagy J:217031
abnormal bone marrow cavity morphology J:67273
abnormal bone ossification J:67273
abnormal coat/hair pigmentation J:217031
abnormal hair shaft melanin granule distribution J:217031
abnormal head morphology J:67273
abnormal osteoclast morphology J:67273, J:217031
abnormal osteoclast physiology J:67273
decreased body size J:67273
failure of tooth eruption J:67273
increased osteoblast cell number J:67273
increased trabecular bone volume J:217031
optic nerve degeneration J:67273
osteopetrosis J:67273, J:217031
postnatal lethality, incomplete penetrance J:67273
retina degeneration J:67273, J:217031
short limbs J:67273
Clcn7tm3.1Tjj/Clcn7tm3.1Tjj
Emx1tm1.1(cre)Ito/Emx1+
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6 		abnormal cerebral cortex morphology J:155176
abnormal dentate gyrus morphology J:155176
abnormal hippocampus morphology J:155176
abnormal lysosome physiology J:155176
astrocytosis J:155176
enlarged lateral ventricles J:155176
normal growth/size/body region phenotype J:155176
hippocampal neuron degeneration J:155176
limb grasping J:155176
loss of cortex neurons J:155176
loss of hippocampal neurons J:155176
microgliosis J:155176
normal mortality/aging J:155176
neurodegeneration J:155176
normal skeleton phenotype J:155176
Clcn7tm3.1Tjj/Clcn7tm3.1Tjj
Tg(APOE-cre)VITew/0
B6.Cg-Clcn7tm3.1Tjj Tg(APOE-cre)VITew 		abnormal lysosome physiology J:155176
accumulation of giant lysosomes in kidney/renal tubule cells J:155176
Clcn7tm4.1Tjj/Clcn7+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		hippocampal neuron degeneration J:160702
retina degeneration J:160702
Clcn7tm4.1Tjj/Clcn7tm4.1Tjj
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal autophagy J:217031
abnormal lysosome physiology J:160702
abnormal osteoclast morphology J:160702, J:217031
abnormal osteoclast physiology J:160702
abnormal tooth eruption J:160702
abnormal trabecular bone morphology J:160702
decreased body weight J:160702
increased bone mineral density J:160702
increased trabecular bone thickness J:160702
neurodegeneration J:160702
osteopetrosis J:160702, J:217031
normal pigmentation phenotype J:160702, J:217031
postnatal growth retardation J:160702
premature death J:160702
retina degeneration J:160702, J:217031
small cranium J:160702
Clcn7tm5.1Tjj/Clcn7+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		no abnormal phenotype detected J:217031
Clcn7tm5.1Tjj/Clcn7tm5.1Tjj
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal cerebral cortex morphology J:217031
abnormal chloride level J:217031
abnormal hippocampus neuron morphology J:217031
abnormal hippocampus pyramidal cell morphology J:217031
abnormal lysosome morphology J:217031
abnormal lysosome physiology J:217031
abnormal osteoclast morphology J:217031
normal cellular phenotype J:217031
failure of tooth eruption J:217031
hippocampal neuron degeneration J:217031
hippocampus pyramidal cell degeneration J:217031
increased trabecular bone volume J:217031
neurodegeneration J:217031
osteopetrosis J:217031
normal pigmentation phenotype J:217031
postnatal growth retardation J:217031
premature death J:217031
normal vision/eye phenotype J:217031
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory