Phenotypes Associated with This Genotype

Genotype
MGI:5925369

• Allelic Composition: Ptch1^tm1Bjw/Ptch1^tm1Bjw; Tg(KRT14-cre)8Brn/0
• Genetic Background: involves: 129T2/SvEms * FVB/N

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

endocrine/exocrine glands

thymus hypoplasia ( J:231264 )

growth/size/body

postnatal growth retardation ( J:231264 )

• severe growth deficiency such that mice do not progress beyond 49% of control weight, with differences first seen around P19

hematopoietic system

thymus hypoplasia ( J:231264 )

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:231264 )

• serum Igf1 levels are reduced

• however, serum growth hormone levels are normal

immune system

thymus hypoplasia ( J:231264 )

integument

skin lesions ( J:231264 )

• hyperproliferative lesions first develop in the skin around P19

increased basal cell carcinoma incidence ( J:231264 )

• mice show rapid development basal cell carcinoma

neoplasm

increased basal cell carcinoma incidence ( J:231264 )

• mice show rapid development basal cell carcinoma

reproductive system

infertility ( J:231264 )

• mice do not breed successfully

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
basal cell carcinoma		DOID:2513		J:231264