Phenotypes Associated with This Genotype

Genotype
MGI:5004866

• Allelic Composition: Pten^tm2Mak/Pten^tm2Mak; Tg(Fabp1-cre)1Jig/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

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

neoplasm

increased incidence of tumors by chemical induction ( J:113388 )

• mutants exhibit increased susceptibility to N-butyl-N-(4-hydroxybutyl) nitrosamine (BBN)-induced bladder cancer, with 50% developing transitional cell carcinomas (TCC) and 25% developing carcinoma in situ (CIS) and dysplasia compared to 8% of wild-type mice developing TCC and 8% developing CIS and dysplasia at 16 weeks after BBN administration

increased urinary bladder transitional cell carcinoma incidence ( J:113388 )

• mutants develop spontaneous superficial papillary transitional cell carcinomas, with an incidence of 10% in 40-80 week old mutants

renal/urinary system

increased urinary bladder transitional cell carcinoma incidence ( J:113388 )

• mutants develop spontaneous superficial papillary transitional cell carcinomas, with an incidence of 10% in 40-80 week old mutants

hydronephrosis ( J:113388 )

• two mutants exhibit hydronephrosis due to presence of large cancers in the bladder or renal pelvis

abnormal urothelium morphology ( J:113388 )

• thickening of the urothelial layer by 8 weeks of age due to increases in cell number and cell size

• urothelial hyperplasia is due to increased proliferation of bladder epithelial cells

abnormal urinary bladder urothelium morphology ( J:113388 )

• absolute numbers of bladder epithelial cells are increased 1.6-fold over wild-type levels at 8 weeks of age and 2.6-fold at 48 weeks of age

• size of individual bladder epithelial cells is greater than control cells; increase in size is not due to polyploidy as both diploid and tetraploid cell fractions are increased

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:113388 )

• mutants exhibit increased susceptibility to N-butyl-N-(4-hydroxybutyl) nitrosamine (BBN)-induced bladder cancer, with 50% developing transitional cell carcinomas (TCC) and 25% developing carcinoma in situ (CIS) and dysplasia compared to 8% of wild-type mice developing TCC and 8% developing CIS and dysplasia at 16 weeks after BBN administration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
urinary bladder cancer		DOID:11054	OMIM:109800	J:113388