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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Kctd1Mhdahst014
Martin Hrabe de Angelis Hst014
MGI:5910041
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Kctd1Mhdahst014/Kctd1Mhdahst014 C3HeB/FeJ-Kctd1Mhdahst014 MGI:6506604
ht2
 		Kctd1Mhdahst014/Kctd1+ C3HeB/FeJ-Kctd1Mhdahst014 MGI:6276302


Genotype
MGI:6506604
hm1
Allelic
Composition		 Kctd1Mhdahst014/Kctd1Mhdahst014
Genetic
Background		 C3HeB/FeJ-Kctd1Mhdahst014
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kctd1Mhdahst014 mutation (0 available); any Kctd1 mutation (39 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
perinatal lethality, complete penetrance ( J:250423 )
• homozygous mutant mice die perinatally




Genotype
MGI:6276302
ht2
Allelic
Composition		 Kctd1Mhdahst014/Kctd1+
Genetic
Background		 C3HeB/FeJ-Kctd1Mhdahst014
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kctd1Mhdahst014 mutation (0 available); any Kctd1 mutation (39 available)
♀ 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
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 albumin level ( J:250423 )
• decreased albumin excretion 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 blood urea nitrogen level ( J:250423 )
• increased plasma urea levels at 6, 9 and 17 weeks of age in both sexes
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
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
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 albumin level ( J:250423 )
• decreased albumin excretion 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 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




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11/12/2024
MGI 6.24 		The Jackson Laboratory