Phenotypes associated with this allele

• Allele Symbol: Fancc^tm1Mab
• Allele Name: targeted mutation 1, Manuel Buchwald
• Allele ID: MGI:1858040
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fancc^tm1Mab/Fancc^tm1Mab	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4943734
hm2	Fancc^tm1Mab/Fancc^tm1Mab	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2450130
cx3	Fancc^tm1Mab/Fancc^tm1Mab Tert^tm1Leah/Tert^tm1Leah	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4943735
cx4	Fancc^tm1Mab/Fancc^tm1Mab Sod1^tm1Cep/Sod1^tm1Cep	involves: 129S1/Sv * 129X1/SvJ	MGI:4943732

Genotype
MGI:4943734

hm1

• Allelic Composition: Fancc^tm1Mab/Fancc^tm1Mab
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

cellular

decreased telomere length ( J:157096 )

• telomere attrition in serially transplanted bone marrow cells is accelerated compared with wild-type cells

Genotype
MGI:2450130

hm2

• Allelic Composition: Fancc^tm1Mab/Fancc^tm1Mab
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

reproductive system

abnormal reproductive system morphology ( J:32080 )

abnormal ovary morphology ( J:32080 )

♀ • deficient germinative stroma

absent corpus luteum ( J:32080 )

♀

impaired ovarian folliculogenesis ( J:32080 )

♀

seminiferous tubule degeneration ( J:32080 )

♂

testicular atrophy ( J:32080 )

♂

arrest of spermatogenesis ( J:32080 )

♂ • presence of spermatidic giant cells

abnormal fertility/fecundity ( J:32080 )

female infertility ( J:32080 )

♀ • 73% of young (1.5-4 mo) and 83% of older (7-10 mo) female mice were sterile

male infertility ( J:32080 )

♂ • 40% of young (1.5-4 mo) and 67% of older (7-10 mo) male mice were sterile

reduced fertility ( J:32080 )

• successful matings of homozygous mutant and wild-type mice yielded litters of reduced size

decreased litter size ( J:32080 )

endocrine/exocrine glands

abnormal ovary morphology ( J:32080 )

♀ • deficient germinative stroma

absent corpus luteum ( J:32080 )

♀

impaired ovarian folliculogenesis ( J:32080 )

♀

seminiferous tubule degeneration ( J:32080 )

♂

testicular atrophy ( J:32080 )

♂

hematopoietic system

hematopoietic system phenotype ( J:32080 )

N • normal hematocrit, hemoglobin, erythrocyte, leukocyte, and platelet counts through 9 mo of age

decreased common myeloid progenitor cell number ( J:71134 )

abnormal common lymphocyte progenitor cell morphology ( J:71134 )

• pre-B colony forming units are decreased compared to controls

thrombocytopenia ( J:71134 )

• in 8 week old, but not older, mice

abnormal hematopoietic system physiology ( J:47897 )

• following stimulation with TNF-alpha and CCL3/MIP1alpha, immature and differentiated myeloid hematopoietic cells exhibit increased apoptosis compared with controls

abnormal hematopoietic stem cell physiology ( J:47897 )

• hematopoietic progenitors exhibit increased sensitivity to methylmethanesulfonate and multiple inhibitory cytokines (IFN-gamma, TNF-alpha, and CCL3/MIP1alpha) compared with similarly treated control cells

• cultured hematopoietic progenitor cells exhibit increased suicide compared with control cells

cellular

increased cellular sensitivity to methylmethanesulfonate ( J:47897 )

• in hematopoietic progenitor cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fanconi anemia complementation group C		DOID:0111087	OMIM:227645	J:32080

Genotype
MGI:4943735

cx3

• Allelic Composition: Fancc^tm1Mab/Fancc^tm1Mab; Tert^tm1Leah/Tert^tm1Leah
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

cellular

abnormal cell physiology ( J:157096 )

• late generation mice exhibit increased short telomere-initiated telomere sister chromatid exchange compared to in cells from Tert^tm1Leah homozygotes

Genotype
MGI:4943732

cx4

• Allelic Composition: Fancc^tm1Mab/Fancc^tm1Mab; Sod1^tm1Cep/Sod1^tm1Cep
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

hematopoietic system

abnormal bone marrow cell morphology/development ( J:71134 )

• the number of committed progenitor cells in the bone marrow is decreased compared to in wild-type mice

• however, the number of primitive progenitor numbers are normal

decreased common myeloid progenitor cell number ( J:71134 )

• 75-fold

decreased bone marrow cell number ( J:71134 )

• mice exhibit hypocellular bone marrow compared with wild-type mice

• however, the number of primitive progenitor numbers are normal

abnormal common lymphocyte progenitor cell morphology ( J:71134 )

• pre-B colony forming units are decreased 75-fold compared to in wild-type mice

decreased erythrocyte cell number ( J:71134 )

decreased hemoglobin content ( J:71134 )

increased mean corpuscular volume ( J:71134 )

polychromatophilia ( J:71134 )

decreased leukocyte cell number ( J:71134 )

decreased neutrophil cell number ( J:71134 )

abnormal lymphocyte morphology ( J:71134 )

• lymphocytes exhibit immature nuclear chromatin unlike wild-type mice

decreased lymphocyte cell number ( J:71134 )

liver/biliary system

microvesicular hepatic steatosis ( J:71134 )

• mice develop zonal microvesicular hepatic steatosis unlike wild-type mice

pale liver ( J:71134 )

abnormal hepatocyte physiology ( J:71134 )

• primary liver cells generate increased levels of superoxide compared with wild-type cells

skeleton

abnormal bone marrow morphology ( J:71134 )

• bone marrow exhibits an increase in fat cells compared to in wild-type mice

immune system

decreased leukocyte cell number ( J:71134 )

decreased neutrophil cell number ( J:71134 )

abnormal lymphocyte morphology ( J:71134 )

• lymphocytes exhibit immature nuclear chromatin unlike wild-type mice

decreased lymphocyte cell number ( J:71134 )