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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Igktm1.1Cog
targeted mutation 1.1, Michel Cogne
MGI:3795280
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Igktm1.1Cog/Igktm1.1Cog involves: 129P2/OlaHsd * C57BL/6 * FVB/N MGI:3797404
ht2
 		Igktm1.1Cog/Igktm1.2Cog involves: 129P2/OlaHsd * C57BL/6 * FVB/N MGI:3797405
cn3
 		Igktm1.1Cog/Igktm1.2Cog
Tg(Mx1-cre)1Cgn/0 		involves: 129P2/OlaHsd * C57BL/6 * CBA * FVB/N MGI:3797406
cn4
 		Igktm1.1Cog/Igktm1.1Cog
Tg(Mx1-cre)1Cgn/0 		involves: 129P2/OlaHsd * C57BL/6 * CBA * FVB/N MGI:3797407


Genotype
MGI:3797404
hm1
Allelic
Composition		 Igktm1.1Cog/Igktm1.1Cog
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igktm1.1Cog mutation (0 available); any Igk mutation (26 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
increased urine phosphate level ( J:135758 )
• increased fractional excretion of phosphate
increased urine protein level ( J:135758 )
• increased urine concentration of Clara cell protein
increased urine uric acid level ( J:135758 )
• increased fractional excretion of uric acid
abnormal proximal convoluted tubule morphology ( J:135758 )
• intracellular rhomboid microcrystals are present associated with lesions of the proximal tubules, cytoplasm atrophy, segmental loss of the apical microvillous border, duplication of the tubular basement membrane, and enlarged mitochondria
• crystal accumulation is seen primarily in the distal part of the proximal tubule
proximal convoluted tubule brush border loss ( J:135758 )
• segmental loss of the apical microvillous border in proximal tubule cells with heavy crystalline accumulation

homeostasis/metabolism
increased urine phosphate level ( J:135758 )
• increased fractional excretion of phosphate
increased urine protein level ( J:135758 )
• increased urine concentration of Clara cell protein
increased urine uric acid level ( J:135758 )
• increased fractional excretion of uric acid

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
renal tubular transport disease DOID:447 J:135758




Genotype
MGI:3797405
ht2
Allelic
Composition		 Igktm1.1Cog/Igktm1.2Cog
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igktm1.1Cog mutation (0 available); any Igk mutation (26 available)
Igktm1.2Cog mutation (0 available); any Igk mutation (26 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
abnormal proximal convoluted tubule morphology ( J:135758 )
• intracellular rhomboid microcrystals are present associated with mild lesions of the proximal tubules

homeostasis/metabolism

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
renal tubular transport disease DOID:447 J:135758




Genotype
MGI:3797406
cn3
Allelic
Composition		 Igktm1.1Cog/Igktm1.2Cog
Tg(Mx1-cre)1Cgn/0
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * CBA * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igktm1.1Cog mutation (0 available); any Igk mutation (26 available)
Igktm1.2Cog mutation (0 available); any Igk mutation (26 available)
Tg(Mx1-cre)1Cgn mutation (7 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
renal/urinary system phenotype ( J:135758 )
N
• following pIpC injection crystal inclusions are no longer detectable in the proximal tubules




Genotype
MGI:3797407
cn4
Allelic
Composition		 Igktm1.1Cog/Igktm1.1Cog
Tg(Mx1-cre)1Cgn/0
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * CBA * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igktm1.1Cog mutation (0 available); any Igk mutation (26 available)
Tg(Mx1-cre)1Cgn mutation (7 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
abnormal proximal convoluted tubule morphology ( J:135758 )
• following pIpC injection the density of crystal inclusions in the proximal tubules is decreased but not eliminated




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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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory