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Phenotypes Associated with This Genotype
Genotype
MGI:5467971
Allelic
Composition
Aldh2tm1a(EUCOMM)Wtsi/Aldh2tm1a(EUCOMM)Wtsi
Fancd2tm1Hou/Fancd2tm1Hou
Genetic
Background
involves: 129S4/SvJae * C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aldh2tm1a(EUCOMM)Wtsi mutation (1 available); any Aldh2 mutation (35 available)
Fancd2tm1Hou mutation (0 available); any Fancd2 mutation (81 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice are present at E16.5 following in utero exposure to ethanol at E7.5
• unexposed mice succumb to an acute illness (weight loss and lethargy) within 3 to 6 months
• despite expected ratios at E9.5, all offspring die by E13.5 when dams are Aldh2tm1a(EUCOMM)Wtsi homozygotes despite no effect on offpsring heterozygous for the allele

immune system
• the nucleated cellularity of the thymus is decreased in 8-12 week old mice
• blast-like lymphoid cells in the peripheral blood film and bone marrow aspirate in unexposed mice
• in three instances in unexposed mice
• in one instance in an unexposed mice
• in 8-12 week old mice
• the nucleated cellularity of the spleen is decreased in 8-12 week old mice
• in unexposed mice

neoplasm
• in most unexposed mice

growth/size/body
• in unexposed mice
• in unexposed mice
• most unexposed mice develop large mediastinal mass
• in unexposed mice

vision/eye
• unexposed mice exhibit eye abnormalities unlike control mice
• in utero exposure to ethanol increased the prevalence of eye abnormalities compared to in control mice
• mice exposed to ethanol at E7.5 unlike control mice

nervous system
• mice exposed to ethanol at E7.5 unlike control mice

behavior/neurological
• in unexposed mice

homeostasis/metabolism
• fewer than expected mice are present at E16.5 following in utero exposure to ethanol at E7.5
• B cells, erythroid progenitor and granulocyte-macrophage progenitor cells are more sensitive to acetaldehyde than wild-type cells, but no more sensitive than single Fancd2 homozygotes

limbs/digits/tail
• in unexposed mice

hematopoietic system
• the nucleated cellularity of the thymus is decreased in 8-12 week old mice
• blast-like lymphoid cells in the peripheral blood film and bone marrow aspirate in unexposed mice
• in three instances in unexposed mice
• aged mice that do not develop leukemia show extramedullary hematopoiesis
• aged mice that do not develop leukemia spontaneously develop aplastic anemia, with accumulation of damaged DNA within the hematopoietic stem and progenitor cell pool (J:188123)
• in 6 to 8 week old mice exposed to ethanol (J:193232)
• almost complete obliteration of bone marrow hematopoiesis in 6 to 8 week old mice exposed to ethanol
• from bone marrow of 6 to 8 week old mice exposed to ethanol produces fewer progenitor colony-forming units corresponding to pre-B cells, granulocytes and erythrocytes compared with control mice
• the nucleated cellularity of whole bone marrow is decreased in 8-12 week old mice (J:188123)
• of nucleated cells in 6 to 8 week old mice exposed to ethanol (J:193232)
• in 8-12 week old mice (J:188123)
• young mice, however exhibit normal T cell, B cell, myeloid, and erythroid differentiation (J:188123)
• in 6 to 8 week old mice exposed to ethanol (J:193232)
• in 8-12 week old mice
• in 8-12 week old mice (J:188123)
• in 6 to 8 week old mice exposed to ethanol (J:193232)
• young mice exhibit an increase in the mean corpuscular volume of erythrocytes
• in 8-12 week old mice
• in one instance in an unexposed mice
• in 8-12 week old mice
• young mice that have not develop leukemia show a 30-fold reduction in the LKS population, 10-fold reduction in the frequency of LT-HSCs (Lin- c-Kit+ Sca-1+ Flt3- CD34-), and a 251-fold reduction in the frequency of HSCs (Lin- CD41- CD48- CD150+ c-Kit+ Sca-1+) in the bone marrow
• aged mice that do not develop leukemia show pancytopenia
• the nucleated cellularity of the spleen is decreased in 8-12 week old mice
• in unexposed mice
• accumulation in the S-G2-M phase of the cell cycle in long term hematopoietic stem cells (LT-HSCs)
• reduction in the number of quiescent (G0) LT-HSCs, with the majority actively cycling

endocrine/exocrine glands
• the nucleated cellularity of the thymus is decreased in 8-12 week old mice

cellular
• B cells, erythroid progenitor and granulocyte-macrophage progenitor cells are more sensitive to acetaldehyde than wild-type cells, but no more sensitive than single Fancd2 homozygotes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Fanconi anemia complementation group D2 DOID:0111083 OMIM:227646
J:193232


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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last database update
06/12/2024
MGI 6.13
The Jackson Laboratory