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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Clcn5tm1Tjj
targeted mutation 1, Thomas J Jentsch
MGI:2181018
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Clcn5tm1Tjj/Clcn5+
Clcn7tm3.1Tjj/Clcn7tm3.1Tjj
Tg(APOE-cre)VITew/0
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J MGI:4414640
ot2
Clcn5tm1Tjj/Y B6.129-Clcn5tm1Tjj MGI:3046533
ot3
Clcn5tm1Tjj/Y involves: 129 MGI:4457647


Genotype
MGI:4414640
cn1
Allelic
Composition
Clcn5tm1Tjj/Clcn5+
Clcn7tm3.1Tjj/Clcn7tm3.1Tjj
Tg(APOE-cre)VITew/0
Genetic
Background
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn5tm1Tjj mutation (0 available); any Clcn5 mutation (17 available)
Clcn7tm3.1Tjj mutation (0 available); any Clcn7 mutation (42 available)
Tg(APOE-cre)VITew mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype



Genotype
MGI:3046533
ot2
Allelic
Composition
Clcn5tm1Tjj/Y
Genetic
Background
B6.129-Clcn5tm1Tjj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn5tm1Tjj mutation (0 available); any Clcn5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mutant urine is slightly acidic relative to wild-type
• urinary phosphate excretion is increased by about 50%
• however, no hypercalciuria is observed
• mutants exhibit low-molecular-weight proteinuria
• vitamin D binding protein and retinol binding protein are highly elevated in the urine of mutant mice
• iodinated beta-2 microglobulin is lost into the urine in much larger quantities relative to wild-type
• mutants display upregulation of proximal tubular alpha-hydroxylation of 25(OH) vitamin D3 to the active hormone

liver/biliary system
N
• mutant mice display no significant defect in endocytosis of asialofetuin in the liver

renal/urinary system
N
• mutant kidneys appear morphologically and histologically normal
• no kidney stones or nephrocalcinosis are observed even after one year
• mutant urine is slightly acidic relative to wild-type
• urinary phosphate excretion is increased by about 50%
• however, no hypercalciuria is observed
• mutants exhibit low-molecular-weight proteinuria
• vitamin D binding protein and retinol binding protein are highly elevated in the urine of mutant mice
• iodinated beta-2 microglobulin is lost into the urine in much larger quantities relative to wild-type
• mutant kidneys show impaired apical proximal tubular endocytosis (J:77111)
• in autoradiography studies, radioactivity accumulates in deeper (probably pelvic) regions of mutant kidneys as opposed to the cortical region (i.e. proximal tubules) (J:77111)
• following injection of fluorescently labelled lactoglobulin, wild-type mice accumulate substantial amounts of the protein in vesicles below the brush border of PT cells; in contrast, mutant tubules take up much less protein (J:77111)
• endocytosis of horseradish peroxidase and of FITC-dextran is also inhibited (J:77111)
• internalization of the apical transporters NaPi-2 and NHE3 is retarded; at steady state, however, both proteins are redistributed from the plasma membrane to intracellular vesicles (J:77111)
• defective tubular endocytosis results in increased luminal concentration of parathyroid hormone (PTH) and subsequent stimulation of apical PTH receptors (J:91340)
• in mutants, apical endosomes of proximal tubular cells are acidified at a significantly lower rate relative to wild-type endosomes (J:91340)
• mutant mice produce slightly more urine

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Dent disease DOID:0050699 OMIM:300009
OMIM:300555
J:77111




Genotype
MGI:4457647
ot3
Allelic
Composition
Clcn5tm1Tjj/Y
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn5tm1Tjj mutation (0 available); any Clcn5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• urine insulin levels are increased compared to in wild-type mice

cellular
• endocytosis is defective compared to in wild-type cells
• renal endosomes fail to undergo acidification unlike in wild-type cells

homeostasis/metabolism
• urine insulin levels are increased compared to in wild-type mice





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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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory