About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:6392094
Allelic
Composition
Fancd2em1Tzh/Fancd2em1Tzh
Genetic
Background
C57BL/6-Fancd2em1Tzh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fancd2em1Tzh mutation (0 available); any Fancd2 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 30% of pups with growth retardation gradually die of progressive asthenia around and after weaning
• pups are born at a lower rate than expected, with only 5.5% versus the expected 25% of pups seen at P14

growth/size/body
• P60 mice are slightly smaller
• 30% of pups show severe growth retardation

behavior/neurological
• 30% of pups with growth retardation gradually die of progressive asthenia around and after weaning

endocrine/exocrine glands
• ovaries show only interstitial cells and no follicle structures
• testes show aberrant tubules

hematopoietic system
• the R2 (basophilic erythroblasts) and R3 (chromatophilic erythroblasts) stage immature erythroblasts are reduced in the bone marrow, indicating impaired basal state erythropoiesis
• increase in the R1-R4 (proerythroblasts, basophilic erythroblasts, chromatophilic erythroblasts, and orthochromatophilic erythroblasts) stage immature erythroblasts in the spleen, suggesting stressed erythropoiesis in the spleen
• mice show progressive anemia
• reduction in the frequencies of hematopoietic stem cell-enriched myeloid progenitor compartment
• bone marrow contains 1/2 the numbers of myeloid progenitor cells and 1/3 of LSK cells compared to wild-type
• bone marrow shows a severe deficit in the long-term hematopoietic stem cells (LT-HSCs), short-term HSCs (ST-HSCs) and multi-potent progenitors (MPPs)
• however, frequencies if mature myeloid cells (Gr1+CD11b+) or lymphoid cells (B220+ or CD3e+) are normal in the bone marrow
• the R2 (basophilic erythroblasts) and R3 (chromatophilic erythroblasts) stage immature erythroblasts are reduced in the bone marrow, indicating impaired basal state erythropoiesis
• increase in the R1-R4 (proerythroblasts, basophilic erythroblasts, chromatophilic erythroblasts, and orthochromatophilic erythroblasts) stage immature erythroblasts in the spleen, suggesting stressed erythropoiesis in the spleen
• red blood cell count is reduced in 2-month-old mice
• slight, but significant, reduction in hemoglobin level
• however, white blood cell counts, platelets and mean corpuscular volume level are normal
• reduction in the frequencies of hematopoietic stem cell-enriched LSK compartment
• bone marrow contains 1/3 of LSK cells compared to wild-type bone marrow
• bone marrow shows a severe deficit in the long-term hematopoietic stem cells (LT-HSCs), short-term HSCs (ST-HSCs) and multi-potent progenitors (MPPs)
• bone marrow progenitor cells show elevated cell death, apoptosis, and G2-M phase accumulation at baseline and upon Mitomycin C treatment

immune system

reproductive system
• testes show total absence of germ cells
• ovaries show only interstitial cells and no follicle structures
• testes show aberrant tubules

vision/eye
• 2 month old eyes show lack of lens development
• 90% of mice exhibit aphakia or microphthalmia
• 2 month old eyes show lack of retina chamber development
• 90% of mice exhibit aphakia or microphthalmia

cellular
• testes show total absence of germ cells
• bone marrow progenitor cells show increased cell death and G2-M phase arrest after ionizing radiation treatment

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Fanconi anemia complementation group D2 DOID:0111083 OMIM:227646
J:284566


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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/23/2021
MGI 6.16
The Jackson Laboratory