Phenotypes associated with this allele

• Allele Symbol: Fxyd4^tm1Grt
• Allele Name: targeted mutation 1, Haim Garty
• Allele ID: MGI:2387972
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fxyd4^tm1Grt/Fxyd4^tm1Grt	involves: 129S1/Sv * 129X1/SvJ * MF1	MGI:3055526

Genotype
MGI:3055526

hm1

• Allelic Composition: Fxyd4^tm1Grt/Fxyd4^tm1Grt
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * MF1

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

behavior/neurological

increased fluid intake ( J:78904 )

• under normal conditions, homozygotes exhibit a slightly higher water intake relative to wild-type

increased food intake ( J:78904 )

• under normal conditions, homozygotes exhibit a slightly higher food intake relative to wild-type

growth/size/body

decreased body size ( J:78904 )

• homozygotes are viable, fertile and normal in most parameters measured, but are ~15% smaller than wild-type mice

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:78904 )

N • homozygotes show normal Na+ and K+ plasma concentrations, aldosterone levels, and osmolality under both normal and high-K+ rations

abnormal ion homeostasis ( J:78904 )

• in homozygotes, a high-KCl diet increases K+ intake by about 13-fold, with no alteration in Na+ intake

increased circulating potassium level ( J:78904 )

• homozygotes display a defect in K+ secretion when K+ loading is combined with the inhibition of NaCl absorption by furosemide

• under these conditions, 44% of homozygotes die within 10 days while the rest become hyperkalemic

renal/urinary system

abnormal renal glomerular filtration rate ( J:78904 )

• under K+ loading, homozygotes show a significant elevation in GFR; however, fractional excretion rates of Na+ and K+ and fractional reabsorption of water remain normal relative to wild-type

• under Na+ deprivation, increased urine output is transient and not accompanied by significant changes in GFR; in addition, plasma Na+ is significantly reduced

polyuria ( J:78904 )

• homozygotes exhibit a larger volume (2-fold) of urine excretion (and water intake) under conditions of K+ loading or Na+ deprivation

• increased urine excretion (and water intake) is observed during electrolyte stress but not when diuresis is evoked by excessive water intake