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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Abcg5trac
thrombocytopenia and cardiomyopathy
MGI:2156990
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Abcg5trac/Abcg5trac A/J-Abcg5trac MGI:4430894


Genotype
MGI:4430894
hm1
Allelic
Composition
Abcg5trac/Abcg5trac
Genetic
Background
A/J-Abcg5trac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcg5trac mutation (2 available); any Abcg5 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• progressive decline and death by 4 to 6 months of age
• mean lifespan is shortened

reproductive system
• sperm are present in testicular tubules but only a few degenerate sperm are seen in the epididymis (spermatic abiotrophy)
• females are infertile
• however, when ovaries are transferred to ovarectomized immunodeficient recipients matings to wild-type mice produce heterozygous mutant pups

hematopoietic system
• mild regenerative hemolytic anemia
• absence of a well defined demarcation membrane system with membranes taking on a spherical or bubble like appearance
• the endoplasmic reticulum is more prominent and dilated, there is a reduction in the number of alpha granules and dense bodies, and a wider peripheral zone
• bone marrow and spleen megakaryocytes most commonly underwent only one endomitosis to a ploidy of 4N
• histologically in bone marrow, spleen and lung
• FACS analysis of 4-8 week-old mouse bone marrow shows a 4-fold increase in percentages of CD41+CD61+ megakaryocytes
• at 6 to 10 weeks of age, occasional megakaryocytes are seen in the peripheral blood
• 2-fold increase in the number of megakaryocyte progenitors in the bone marrow at 19 to 34 weeks of age
• in young adults
• in peripheral blood smears, at 6 to 10 weeks of age
• stomatocytes are present in peripheral blood smears, at 6 to 10 weeks of age
• increase in the percentage of neutrophils
• beta-1 tubulin-stained platelets have a more intense staining and an increase in the diameter of the microtubule coils
• by TEM, an increase in the number of small, immature alpha-granules and in the numbers of mitochondria
• TEM shows the scattered remnants of rough endoplasmic reticulum normally lost during platelet maturation and absence of normal microtubular elements
• increased number of small, immature alpha-granules per platelet
• at 10 to 17 weeks of age, show a 20-fold reduction in platelet numbers
• however, at weaning platelet numbers are normal
• at 10 to 17 weeks of age, show a 3-fold increase in platelet volume
• at 6 to 10 weeks of age, greatly enlarged platelets are present in peripheral blood smears
• 2-fold reduction in the numbers of white blood cells
• twice the number of reticulocytes
• increase in red blood cell fragility
• a decrease in the platelet activation response by 11 weeks of age
• at 11 weeks of age, have impaired platelet aggregation

homeostasis/metabolism
• a decrease in the platelet activation response by 11 weeks of age
• at 11 weeks of age, have impaired platelet aggregation
• plasma levels of plant sterols including free and esterified sitosterol, stigmasterol, brassicasterol, and campesterol are significantly elevated
• esterified cholesterol levels are decreased to one-half those found in plasma from littermates, although free cholesterol levels do not differ
• greatly increased bleeding times following amputation of the tail tip

cardiovascular system
• multifocal myocardial fibrosis

behavior/neurological
• at 12 weeks of age

growth/size/body
• at 12 weeks of age

immune system
• increase in the percentage of neutrophils
• 2-fold reduction in the numbers of white blood cells

muscle

cellular
• bone marrow and spleen megakaryocytes most commonly underwent only one endomitosis to a ploidy of 4N





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
01/12/2022
MGI 6.17
The Jackson Laboratory