Phenotypes Associated with This Genotype

Genotype
MGI:3029765

• Allelic Composition: Fhit^tm1Hbn/Fhit⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:71303 )

• 26% of heterozygous mice were found dead before normal life span with evidence of widespread infections

neoplasm

increased tumor incidence ( J:71303 )

• in untreated mice, the incidence of spontaneous tumors of various types was 53%

increased incidence of tumors by chemical induction ( J:61946 , J:71303 , J:110096 )

• 10 weeks after NMBA treatment, all heterozygous mice exhibited tumors in various tissues, especially the gastrointestinal tract including the forestomach and squamocolumnar juction; the incidence of tumors in control mice was 25% (J:61946)

• 78% of mice exhibit large sebaceous tumors after a single dose of NMBA, especially in the gastrointestinal tract (J:71303)

• mutants develop preneoplastic lesions of the uterus more frequently than wild-type after multiple doses of benzol[a]pyrene (B[a]P), however develop similar levels of forestomach and lung tumors (J:110096)

hematopoietic system

decreased granulocyte number ( J:71303 )

• granulocyte numbers are 2-6% of total blood lymphocytes; controls granulocyte numbers are 15% of total

immune system

decreased granulocyte number ( J:71303 )

• granulocyte numbers are 2-6% of total blood lymphocytes; controls granulocyte numbers are 15% of total

increased susceptibility to infection ( J:71303 )

• mice exhibit evidence of widespread infections and abcesses

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:61946 , J:71303 , J:110096 )

• 10 weeks after NMBA treatment, all heterozygous mice exhibited tumors in various tissues, especially the gastrointestinal tract including the forestomach and squamocolumnar juction; the incidence of tumors in control mice was 25% (J:61946)

• 78% of mice exhibit large sebaceous tumors after a single dose of NMBA, especially in the gastrointestinal tract (J:71303)

• mutants develop preneoplastic lesions of the uterus more frequently than wild-type after multiple doses of benzol[a]pyrene (B[a]P), however develop similar levels of forestomach and lung tumors (J:110096)

integument

alopecia ( J:110096 )

• spontaneous alopecia areata and hair bulb cell apoptosis are greatly accelerated in mutants compared to wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Muir-Torre syndrome		DOID:0050465	OMIM:158320	J:61946