Phenotypes associated with this allele

• Allele Symbol: Nbn^em4Jpt
• Allele Name: endonuclease-mediated mutation 4, John H Petrini Nbs1
• Allele ID: MGI:6771582
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nbn^em4Jpt/Nbn^em4Jpt	Not Specified	MGI:6779997
cx2	Nbn^em4Jpt/Nbn^em4Jpt Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S2/SvPas	MGI:6780003

Genotype
MGI:6779997

hm1

• Allelic Composition: Nbn^em4Jpt/Nbn^em4Jpt
• Genetic Background: Not Specified

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

cellular

increased cellular sensitivity to ionizing radiation ( J:251434 )

• following ionizing radiation, the mitotic index of cells is decreased only 72% compared to 85-87% in wild-type cells

• colony-forming assays indicate that ionizing radiation resistance is reduced in MEFs

mortality/aging

mortality/aging ( J:251434 )

N • the expected number of pups are obtained

neoplasm

neoplasm ( J:251434 )

N • mice do not present with malignancy over a 10-month period

Genotype
MGI:6780003

cx2

• Allelic Composition: Nbn^em4Jpt/Nbn^em4Jpt; Trp53^tm1Tyj/Trp53^tm1Tyj
• Genetic Background: involves: 129S2/SvPas

neoplasm

increased leiomyosarcoma incidence ( J:251434 )

increased rhabdomyosarcoma incidence ( J:251434 )

increased histiocytic sarcoma incidence ( J:251434 )

increased squamous cell carcinoma incidence ( J:251434 )

increased hemangiosarcoma incidence ( J:251434 )

decreased tumor latency ( J:251434 )

• mice exhibit a reduced latency of tumor development, with a mean tumor-free survival decreased by 27-50 days relative to single Trp53 homozygous mice

muscle

increased leiomyosarcoma incidence ( J:251434 )

increased rhabdomyosarcoma incidence ( J:251434 )