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Phenotypes Associated with This Genotype
Genotype
MGI:2166359
Allelic
Composition
Rb1tm1Tyj/Rb1tm1Tyj
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rb1tm1Tyj mutation (5 available); any Rb1 mutation (106 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• live homozygotes are rarely recovered at E15.5 and never at E16.5

hematopoietic system
• fetal liver macrophages exhibit defects in differentiation, as indicated by small size, lack of extensive cytoplasmic projections, and weak staining for a mature macrophage marker
• significant decrease in the percentage of enucleated erythrocytes, indicating defective erythrocyte maturation
• at E13.5, peripheral blood smears contain predominantly nucleated erythrocytes

liver/biliary system
• at E13.5 liver cellularity is decreased and the level of apoptosis is increased

nervous system
• at E13.5, apoptosis is increased in the brain, dorsal root ganglia, and trigeminal ganglia
• at E13.5, proliferation is increased in the brain, dorsal root ganglia, and trigeminal ganglia
• detect ectopic mitosis and apoptosis in the intermediate zones of the fourth ventricle
• detect ectopic mitosis and apoptosis in the intermediate zones of the third ventricle
• detect ectopic mitosis and apoptosis in the trigeminal ganglia
• detect ectopic mitosis and apoptosis in the dorsal root ganglia

vision/eye
• apoptosis is detected in the lens fiber compartment that is not seen in wild-type
• at E13.5, ectopic proliferating cells are seen in the interior of the lens and increased apoptosis is seen
• detect ectopic mitoses in the lens fiber compartment that is not seen in wild-type
• lens fiber cells are disorganized

homeostasis/metabolism
• expression of hypoxia-inducible genes is increased in the central nervous system at E13.5

cellular
• MEFs exhibit an increase in the fraction of cells in the S and G2/M phases of the cell cycle
• MEFs fail to efficiently trigger G1/S cell cycle arrest in response to DNA damage
• apoptosis is detected in the lens fiber compartment that is not seen in wild-type
• at E13.5, apoptosis is increased in the brain, dorsal root ganglia, and trigeminal ganglia
• fetal liver macrophages exhibit defects in differentiation, as indicated by small size, lack of extensive cytoplasmic projections, and weak staining for a mature macrophage marker
• at E13.5, proliferation is increased in the brain, dorsal root ganglia, and trigeminal ganglia
• MEFs cultured at confluence exhibit an increase in cell proliferation compared to wild-type MEFs

embryo
• normal labyrinth architecture is disrupted
• the porous appearance of the labyrinth layer is absent
• exhibit defective placental transport as indicated by a 7.2% reduction of the essential fatty acid linoleic acid, arachidonic acid and docosahexaenoic acid in E14.5 embryos relative to wild-type

growth/size/body

immune system
• fetal liver macrophages exhibit defects in differentiation, as indicated by small size, lack of extensive cytoplasmic projections, and weak staining for a mature macrophage marker

integument


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
03/12/2024
MGI 6.23
The Jackson Laboratory