Phenotypes Associated with This Genotype

Genotype
MGI:6392256

• Allelic Composition: Hnf4a^tm1Sad/Hnf4a^tm1Sad; Six2^{tm1(tTA,tetO-EGFP/cre)Amc}/Six2⁺
• Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J

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

behavior/neurological

polydipsia ( J:266356 )

• 2-3 month-old mice exhibit polydipsia

homeostasis/metabolism

increased urine glucose level ( J:266356 )

• mice excrete more glucose in urine

increased urine phosphate level ( J:266356 )

• mice excrete more phosphate in urine

renal/urinary system

increased urine glucose level ( J:266356 )

• mice excrete more glucose in urine

increased urine phosphate level ( J:266356 )

• mice excrete more phosphate in urine

abnormal kidney morphology ( J:266356 )

• adult kidney is disorganized

abnormal kidney development ( J:266356 )

• kidneys show a defect in proximal tubule formation

• marker analysis indicates that formation of differentiated proximal tubule cells is impaired

• however, presumptive proximal tubule formation is not altered and formation of podocytes, loops of Henle, and distal tubules are not affected

small kidney ( J:266356 )

• in adults

abnormal proximal convoluted tubule morphology ( J:266356 )

• adult kidney contains fewer proximal tubules

• decrease in number of proximal tubule cells

nephrocalcinosis ( J:266356 )

• kidneys show calcium accumulation in renal tubules at 2 months of age

polyuria ( J:266356 )

• 2-3 month-old mice excrete more urine

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fanconi syndrome		DOID:1062	OMIM:PS134600	J:266356