All Phenotypes Clcn5<tm1Tjj> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Clcn5^tm1Tjj/Clcn5⁺ Clcn7^tm3.1Tjj/Clcn7^tm3.1Tjj Tg(APOE-cre)VITew/0	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J	MGI:4414640
ot2	Clcn5^tm1Tjj/Y	B6.129-Clcn5^tm1Tjj	MGI:3046533
ot3	Clcn5^tm1Tjj/Y	involves: 129	MGI:4457647

Allelic Composition	Clcn5^tm1Tjj/Clcn5⁺ Clcn7^tm3.1Tjj/Clcn7^tm3.1Tjj 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:
Clcn5^tm1Tjj mutation (0 available); any Clcn5 mutation (17 available)
Clcn7^tm3.1Tjj 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

cellular

accumulation of giant lysosomes in kidney/renal tubule cells ( J:155176 )

renal/urinary system

accumulation of giant lysosomes in kidney/renal tubule cells ( J:155176 )

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

decreased urine pH ( J:77111 )

• mutant urine is slightly acidic relative to wild-type

increased urine phosphate level ( J:77111 )

• urinary phosphate excretion is increased by about 50%

• however, no hypercalciuria is observed

increased urine protein level ( J:77111 )

• mutants exhibit low-molecular-weight proteinuria

• vitamin D binding protein and retinol binding protein are highly elevated in the urine of mutant mice

increased urine beta2-microglobulin level ( J:77111 )

• iodinated beta-2 microglobulin is lost into the urine in much larger quantities relative to wild-type

abnormal metabolism ( J:91340 )

• mutants display upregulation of proximal tubular alpha-hydroxylation of 25(OH) vitamin D3 to the active hormone

liver/biliary system

liver/biliary system phenotype ( J:77111 )

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

renal/urinary system

renal/urinary system phenotype ( J:77111 )

N	• mutant kidneys appear morphologically and histologically normal • no kidney stones or nephrocalcinosis are observed even after one year

decreased urine pH ( J:77111 )

• mutant urine is slightly acidic relative to wild-type

increased urine phosphate level ( J:77111 )

• urinary phosphate excretion is increased by about 50%

• however, no hypercalciuria is observed

increased urine protein level ( J:77111 )

• mutants exhibit low-molecular-weight proteinuria

• vitamin D binding protein and retinol binding protein are highly elevated in the urine of mutant mice

increased urine beta2-microglobulin level ( J:77111 )

• iodinated beta-2 microglobulin is lost into the urine in much larger quantities relative to wild-type

abnormal renal transport ( J:77111 , J:91340 )

• 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)

polyuria ( J:77111 )

• 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

Allelic Composition	Clcn5^tm1Tjj/Y
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn5^tm1Tjj mutation (0 available); any Clcn5 mutation (17 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

increased urine glucose level ( J:160701 )

increased urine calcium level ( J:160701 )

increased urine insulin level ( J:160701 )

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

decreased urine pH ( J:160701 )

increased urine phosphate level ( J:160701 )

cellular

abnormal cell physiology ( J:160701 )

• endocytosis is defective compared to in wild-type cells

• renal endosomes fail to undergo acidification unlike in wild-type cells

homeostasis/metabolism

increased urine glucose level ( J:160701 )

increased urine calcium level ( J:160701 )

increased urine insulin level ( J:160701 )

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

decreased urine pH ( J:160701 )

increased urine phosphate level ( J:160701 )

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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