Phenotypes associated with this allele

• Allele Symbol: Mmp17^tm1Ski
• Allele Name: targeted mutation 1, Motoharu Seiki
• Allele ID: MGI:3777020
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mmp17^tm1Ski/Mmp17^tm1Ski	B6.Cg-Mmp17^tm1Ski	MGI:3777287

Genotype
MGI:3777287

hm1

• Allelic Composition: Mmp17^tm1Ski/Mmp17^tm1Ski
• Genetic Background: B6.Cg-Mmp17^tm1Ski

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

renal/urinary system

increased urine osmolality ( J:171096 )

• homozygotes show increased baseline urine osmolarity relative to wild-type controls but are able to dilute and concentrate their urine normally

• urine osmolarity is consistently higher regardless of dietary salt intake, suggesting normal salt handling

• serum osmolarity, sodium and blood urea nitrogen (BUN) levels remain unaffected, indicating normal renal function

• increased urinary osmolarity is due to hypodipsia

abnormal kidney collecting duct morphology ( J:171096 )

• adult kidneys show subtle defects of collecting duct cellular organization and a reduced density of tubules within the deep renal papilla

abnormal kidney papilla morphology ( J:171096 )

• adult homozygotes exhibit a subtle disorganization in the deep papilla of the kidney

• however, the cortex is morphologically normal with no apparent decrease in the number of renal glomeruli

abnormal branching involved in ureteric bud morphogenesis ( J:171096 )

• when cultured in vitro, E12.5 mutant kidneys show a mild but significant decrease in the number of branches relative to wild-type controls

• however, no difference in nephron number is observed in adult kidneys

oliguria ( J:171096 )

• homozygotes produce 50% less urine than wild-type controls

behavior/neurological

decreased fluid intake ( J:171096 )

• homozygotes drink ~50% the volume of water of wild type controls

hypodipsia ( J:171096 )

• increased urinary osmolarity is due to hypodipsia

homeostasis/metabolism

increased urine osmolality ( J:171096 )

• homozygotes show increased baseline urine osmolarity relative to wild-type controls but are able to dilute and concentrate their urine normally

• urine osmolarity is consistently higher regardless of dietary salt intake, suggesting normal salt handling

• serum osmolarity, sodium and blood urea nitrogen (BUN) levels remain unaffected, indicating normal renal function

• increased urinary osmolarity is due to hypodipsia

mortality/aging

mortality/aging ( J:132553 )

N • no apparent defects in life span

growth/size/body

growth/size/body region phenotype ( J:132553 )

N • no apparent defects in growth and appearance

reproductive system

reproductive system phenotype ( J:132553 )

N • no apparent defects in fertility