Phenotypes Associated with This Genotype

Genotype
MGI:3797404

• Allelic Composition: Igk^tm1.1Cog/Igk^tm1.1Cog
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

• ♀: 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

decreased blood uric acid level ( J:135758 )

decreased circulating phosphate level ( J:135758 )

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