Phenotypes associated with this allele

• Allele Symbol: Chfr^tm1Jc
• Allele Name: targeted mutation 1, Junjie Chen
• Allele ID: MGI:3576266
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Chfr^tm1Jc/Chfr^tm1Jc	involves: 129S/SvEv * C57BL/6	MGI:3576589
ht2	Chfr^tm1Jc/Chfr^+	involves: 129S/SvEv * C57BL/6	MGI:3576590

Genotype
MGI:3576589

hm1

• Allelic Composition: Chfr^tm1Jc/Chfr^tm1Jc
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

mortality/aging

premature death ( J:97428 )

• 9% of homozygotes die by 40 weeks of age compared to 1.6% of wild-type mice

• from 40 to 80 weeks of age 38 homozygous mice died

neoplasm

increased tumor incidence ( J:97428 )

• of the 38 homozygous mice that died between 40 and 80 weeks of age, 29 had tumors most of which were epithelial tumors of the major organs, especially the lung, liver, and gastrointestinal tract; in the same time period 8 wild-type mice died and 3 of those had tumors

increased incidence of tumors by chemical induction ( J:97428 )

• DMBA treatment 3-5 days after birth resulted in skin tumors in about 50% of homozygous mutants at 4 months of age; no tumors were seen in wild-type mice

increased lymphoma incidence ( J:97428 )

• by 40 weeks of age 9 homozygotes (9%) develop lethal lymphoma that invades the thymus liver and spleen; no tumors were seen in wild-type mice by 40 weeks of age

cellular

abnormal mitosis ( J:97428 )

• prolonged prophase and anaphase are seen in mutant MEFs and mitotic errors, including lagging chromosomes, failed nuclear segregation, and cytokinesis failure are seen

chromosome breakage ( J:97428 )

• more than 30% of metaphase mutant MEFs show aneuploidy or polyploidy

• nearly 17% of mutant MEFs contain more than 4N genomic DNA and many multinucleated cells are seen

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:97428 )

• DMBA treatment 3-5 days after birth resulted in skin tumors in about 50% of homozygous mutants at 4 months of age; no tumors were seen in wild-type mice

Genotype
MGI:3576590

ht2

• Allelic Composition: Chfr^tm1Jc/Chfr⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6

mortality/aging

premature death ( J:97428 )

• 5.3% of homozygotes die by 40 weeks of age compared to 1.6% of wild-type mice

neoplasm

increased tumor incidence ( J:97428 )

• tumor incidence is intermediate between homozygous and wild-type mice

increased incidence of tumors by chemical induction ( J:97428 )

• DMBA treatment 3-5 days after birth resulted in an increased incidence of skin tumors in heterozygotes compared to wild-type mice but fewer than in homozygotes

increased lymphoma incidence ( J:97428 )

• by 40 weeks of age, 10 heterozygotes (5.3%) develop lethal lymphoma; no tumors were seen in wild-type mice by 40 weeks of age

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:97428 )

• DMBA treatment 3-5 days after birth resulted in an increased incidence of skin tumors in heterozygotes compared to wild-type mice but fewer than in homozygotes