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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Fancctm1Mab
targeted mutation 1, Manuel Buchwald
MGI:1858040
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Fancctm1Mab/Fancctm1Mab involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:4943734
hm2
 		Fancctm1Mab/Fancctm1Mab involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:2450130
cx3
 		Fancctm1Mab/Fancctm1Mab
Terttm1Leah/Terttm1Leah 		involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:4943735
cx4
 		Fancctm1Mab/Fancctm1Mab
Sod1tm1Cep/Sod1tm1Cep 		involves: 129S1/Sv * 129X1/SvJ MGI:4943732


Genotype
MGI:4943734
hm1
Allelic
Composition		 Fancctm1Mab/Fancctm1Mab
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fancctm1Mab mutation (0 available); any Fancc mutation (68 available)
♀ 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		 Fancctm1Mab/Fancctm1Mab
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fancctm1Mab mutation (0 available); any Fancc mutation (68 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
abnormal ovary morphology ( J:32080 )
• deficient germinative stroma
arrest of spermatogenesis ( J:32080 )
• presence of spermatidic giant cells
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

endocrine/exocrine glands
abnormal ovary morphology ( J:32080 )
• deficient germinative stroma

hematopoietic system
hematopoietic system phenotype ( J:32080 )
N
• normal hematocrit, hemoglobin, erythrocyte, leukocyte, and platelet counts through 9 mo of age
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		 Fancctm1Mab/Fancctm1Mab
Terttm1Leah/Terttm1Leah
Genetic
Background		 involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fancctm1Mab mutation (0 available); any Fancc mutation (68 available)
Terttm1Leah mutation (1 available); any Tert mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal cell physiology ( J:157096 )
• late generation mice exhibit increased short telomere-initiated telomere sister chromatid exchange compared to in cells from Terttm1Leah homozygotes




Genotype
MGI:4943732
cx4
Allelic
Composition		 Fancctm1Mab/Fancctm1Mab
Sod1tm1Cep/Sod1tm1Cep
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fancctm1Mab mutation (0 available); any Fancc mutation (68 available)
Sod1tm1Cep mutation (0 available); any Sod1 mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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 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
abnormal lymphocyte morphology ( J:71134 )
• lymphocytes exhibit immature nuclear chromatin unlike wild-type mice

liver/biliary system
microvesicular hepatic steatosis ( J:71134 )
• mice develop zonal microvesicular hepatic steatosis unlike wild-type mice
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
abnormal lymphocyte morphology ( J:71134 )
• lymphocytes exhibit immature nuclear chromatin unlike wild-type mice




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory