Phenotypes associated with this allele

• Allele Symbol: Hnf4a^tm1Sad
• Allele Name: targeted mutation 1, Stephen A Duncan
• Allele ID: MGI:2385463
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hnf4a^tm1Sad/Hnf4a^tm1Sad	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:2449148
cn2	Hnf4a^tm1Sad/Hnf4a^tm1Sad Six2^tm1(tTA,tetO-EGFP/cre)Amc/Six2^+	involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:6392256
cn3	Hnf4a^tm1Sad/Hnf4a^tm1Sad Tg(Alb1-cre)1Khk/0	involves: C57BL/6 * SJL	MGI:2665532

Genotype
MGI:2449148

hm1

• Allelic Composition: Hnf4a^tm1Sad/Hnf4a^tm1Sad
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

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

normal phenotype

no abnormal phenotype detected ( J:75121 )

Genotype
MGI:6392256

cn2

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

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

Genotype
MGI:2665532

cn3

• Allelic Composition: Hnf4a^tm1Sad/Hnf4a^tm1Sad; Tg(Alb1-cre)1Khk/0
• Genetic Background: involves: C57BL/6 * SJL

liver/biliary system

abnormal liver morphology ( J:84076 )

• presence of large red lesions at 18.5 dpc

decreased liver glycogen level ( J:84076 )

• hepatic glycogen stores were 5 times lower than those of wild-type

abnormal liver development ( J:84076 )

abnormal hepatocyte morphology ( J:84076 )

• hepatocytes were small, round, and loosely associated with each other at 18.5 dpc

dissociated hepatocytes ( J:84076 )

• parenchyma was discontinuous and contained large holes that trapped numerous blood cells

homeostasis/metabolism

decreased liver glycogen level ( J:84076 )

• hepatic glycogen stores were 5 times lower than those of wild-type