About   Help   FAQ
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 (16 available)
Clcn7tm3.1Tjj mutation (0 available); any Clcn7 mutation (40 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 (16 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 (16 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory