Phenotypes associated with this allele

• Allele Symbol: Klhl2^em1Esoh
• Allele Name: endonuclease-mediated mutation 1, Eisei Sohara
• Allele ID: MGI:6355952
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Klhl2^em1Esoh/Klhl2^em1Esoh	C57BL/6-Klhl2^em1Esoh	MGI:6360964

Genotype
MGI:6360964

hm1

• Allelic Composition: Klhl2^em1Esoh/Klhl2^em1Esoh
• Genetic Background: C57BL/6-Klhl2^em1Esoh

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

renal/urinary system

abnormal kidney physiology ( J:250869 )

• protein (but not mRNA) levels of WNK4 are significantly increased in whole kidney homogenates, indicating impaired degradation of WNK4 protein in the kidney

• immunoblots of separated kidney samples revealed a significant increase of WNK4 protein in the outer and inner kidney medulla, with no significant change in the kidney cortex

• however, no abnormal over-activation of the WNK4-OSR1/SPAK-NCC phosphorylation cascade is observed in the whole kidney

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:250869 )

N • despite increased WNK4 protein levels in the kidney medulla, mice exhibit no pseudohypoaldosteronism type II (PHAII)-like phenotypes such as hyperkalemia or metabolic acidosis