Phenotypes Associated with This Genotype

Genotype
MGI:3037833

• Allelic Composition: Tfap2b^tm1Rbu/Tfap2b^tm1Rbu
• Genetic Background: 129P2.129-Tfap2b^tm1Rbu

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

mortality/aging

postnatal lethality, complete penetrance ( J:83000 )

• animals die between 10 and 14 days of birth

behavior/neurological

tremors ( J:83000 )

• described as shivering and trembling behavior

growth/size/body

kidney cyst ( J:83000 )

• tubular or collecting duct cysts present with variable penetrance

postnatal growth retardation ( J:83000 )

• animals are significantly smaller by postnatal day 4

homeostasis/metabolism

increased circulating creatinine level ( J:83000 )

increased circulating parathyroid hormone level ( J:83000 )

increased blood urea nitrogen level ( J:83000 )

abnormal ion homeostasis ( J:83000 )

decreased circulating calcium level ( J:83000 )

• reduced calcium level in the serum

increased circulating phosphate level ( J:83000 )

decreased urine calcium level ( J:83000 )

decreased urine osmolality ( J:83000 )

limbs/digits/tail

polydactyly ( J:83000 )

• additional sixth digit, postaxial hexadactyly

muscle

muscle spasm ( J:83000 )

• described as tetanic cramps

renal/urinary system

kidney cyst ( J:83000 )

• tubular or collecting duct cysts present with variable penetrance

decreased urine calcium level ( J:83000 )

decreased urine osmolality ( J:83000 )

dilated proximal convoluted tubule ( J:83000 )

• dilated tubules present with variable penetrance

abnormal kidney physiology ( J:83000 )

• tubular function defects, but normal glomerular function

integument

scaly skin ( J:83000 )

• described as dry and scaly