Phenotypes Associated with This Genotype

Genotype
MGI:6276302

• Allelic Composition: Kctd1^Mhdahst014/Kctd1⁺
• Genetic Background: C3HeB/FeJ-Kctd1^Mhdahst014

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

renal/urinary system

increased urine calcium level ( J:250423 )

• increased daily urine calcium excretion at 28-32 weeks of age

decreased urine albumin level ( J:250423 )

• decreased albumin excretion at 28-32 weeks of age

increased urine magnesium level ( J:250423 )

• increased daily urine magnesium excretion at 28-32 weeks of age

decreased urine osmolality ( J:250423 )

• decreased urine osmolality at 28-32 weeks of age

decreased urine pH ( J:250423 )

• decreased urine pH at 28-32 weeks of age

decreased urine uric acid level ( J:250423 )

• decreased uric acid excretion at 28-32 weeks of age

abnormal kidney physiology ( J:250423 )

• kidney dysfunction and secondary effects thereof is the primary phenotype observed

• however, no gross histological alterations are observed in the kidneys

polyuria ( J:250423 )

• slightly increased urinary volume at 28-32 weeks of age

• however, water intake is not significantly altered

homeostasis/metabolism

increased circulating creatinine level ( J:250423 )

• increased plasma creatinine levels at 17 weeks of age

increased circulating glucose level ( J:250423 )

• slightly increased glucose levels under fasting and fed conditions at 14 weeks of age

increased circulating calcium level ( J:250423 )

♀ • increased plasma calcium levels in females at 17 weeks of age

increased circulating potassium level ( J:250423 )

• increased plasma potassium levels at 17 weeks of age

increased circulating amylase level ( J:250423 )

• increased plasma alpha-amylase activity level at 17 weeks of age

increased circulating serum albumin level ( J:250423 )

• at 17 weeks of age

increased blood urea nitrogen level ( J:250423 )

• increased plasma urea levels at 6, 9 and 17 weeks of age in both sexes

decreased respiratory quotient ( J:250423 )

• slightly decreased respiratory exchange ratios at 13 weeks of age under ad libitum feeding conditions

increased urine calcium level ( J:250423 )

• increased daily urine calcium excretion at 28-32 weeks of age

decreased circulating chloride level ( J:250423 )

• decreased plasma chloride levels at 17 weeks of age

decreased urine albumin level ( J:250423 )

• decreased albumin excretion at 28-32 weeks of age

increased urine magnesium level ( J:250423 )

• increased daily urine magnesium excretion at 28-32 weeks of age

decreased urine osmolality ( J:250423 )

• decreased urine osmolality at 28-32 weeks of age

decreased urine pH ( J:250423 )

• decreased urine pH at 28-32 weeks of age

decreased urine uric acid level ( J:250423 )

• decreased uric acid excretion at 28-32 weeks of age

decreased alkaline phosphatase activity ( J:250423 )

• decreased alkaline phosphatase activity at 17 weeks of age

hematopoietic system

anemia ( J:250423 )

• erythropenic anemia may be due to kidney dysfunction

decreased erythrocyte cell number ( J:250423 )

• reduced red blood cell count at 17 weeks of age

decreased hematocrit ( J:250423 )

• at 17 weeks of age

decreased hemoglobin content ( J:250423 )

• at 17 weeks of age

decreased mean corpuscular hemoglobin ( J:250423 )

• at 17 weeks of age

decreased mean corpuscular volume ( J:250423 )

• at 17 weeks of age

behavior/neurological

decreased food intake ( J:250423 )

• slight hypophagia at 13 weeks of age under ad libitum feeding conditions

tremors ( J:250423 )

♂ • modified SHIRPA analysis revealed tremors in 6 of 15 heterozygous males (versus 0 of 15 in wild-type males) at 9 weeks of age

decreased grip strength ( J:250423 )

• reduced grip strength for 4 paws in heterozygous males (219 +/- 9 versus 260 +/- 20 in wild-type males) and heterozygous females (223 +/- 18 versus 236 +/- 22 in wild-type females)

trunk curl ( J:250423 )

• modified SHIRPA analysis revealed presence of trunk curl in 2 of 15 heterozygous males (versus 0 of 15 in wild-type males) and 8 of 15 heterozygous females (versus 2 of 15 in wild-type females) at 9 weeks of age

tail dragging ( J:250423 )

• modified SHIRPA analysis revealed tail dragging in 12 of 15 heterozygous males (versus 4 of 15 in wild-type males) and 6 of 15 heterozygous females (versus 2 of 15 in wild-type females) at 9 weeks of age