Phenotypes associated with this allele

• Allele Symbol: Ptch1^tm1.1Hahn
• Allele Name: targeted mutation 1.1, Heidi Hahn
• Allele ID: MGI:5447563
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptch1^tm1.1Hahn/Ptch1^tm1.1Hahn	involves: 129 * BALB/c * C57BL/6 * FVB/N	MGI:5447564
ht2	Ptch1^tm1.1Hahn/Ptch1^+	involves: 129 * BALB/c * C57BL/6 * FVB/N	MGI:5447578

Genotype
MGI:5447564

hm1

• Allelic Composition: Ptch1^tm1.1Hahn/Ptch1^tm1.1Hahn
• Genetic Background: involves: 129 * BALB/c * C57BL/6 * FVB/N

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:149148 )

• mice died before or around E9.5

nervous system

open neural tube ( J:149148 )

• severe neural tube closure defects

embryo

open neural tube ( J:149148 )

• severe neural tube closure defects

Genotype
MGI:5447578

ht2

• Allelic Composition: Ptch1^tm1.1Hahn/Ptch1⁺
• Genetic Background: involves: 129 * BALB/c * C57BL/6 * FVB/N

mortality/aging

premature death ( J:149148 )

• median survival is 148 days

neoplasm

increased tumor incidence ( J:149148 )

• hamartomatous gastrointestinal cystic tumors in 9 of 110 mice located in wall of the stomach, of the intestine or located within pancreatic ducts

increased rhabdomyosarcoma incidence ( J:149148 )

• in 23 of 110 mice

increased medulloblastoma incidence ( J:149148 )

• in 9 of 110 mice

nervous system

increased medulloblastoma incidence ( J:149148 )

• in 9 of 110 mice

muscle

increased rhabdomyosarcoma incidence ( J:149148 )

• in 23 of 110 mice