Phenotypes Associated with This Genotype

Genotype
MGI:7657838

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1^{tm1c(EUCOMM)Wtsi}; Tg(Six2-EGFP/cre)1Amc/0
• Genetic Background: involves: C57BL/6J * C57BL/6N * CD-1

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

renal/urinary system

renal interstitial fibrosis ( J:344153 )

• mice develop severe interstitial renal fibrosis with aging, as seen in patients with Scalp-Ear-Nipple (SEN) syndrome

abnormal distal convoluted tubule morphology ( J:344153 )

• mice show a terminal differentiation defect in the distal convoluted tubule (DCT)

dilated distal convoluted tubule ( J:344153 )

• at 3 months of age, mice show abnormal and dilated distal nephron segments in the kidney cortex

abnormal kidney physiology ( J:344153 )

• adult mice exhibit a distal nephron defect resulting in impaired renal function

homeostasis/metabolism

increased blood urea nitrogen level ( J:344153 )

• mice exhibit elevated BUN at 2-4 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
scalp-ear-nipple syndrome		DOID:0111550	OMIM:181270	J:344153