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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rb1cc1tm1.2Guan
targeted mutation 1.2, Jun-Lin Guan
MGI:3690328
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rb1cc1tm1.2Guan/Rb1cc1tm1.2Guan involves: 129P2/OlaHsd * C57BL/6 MGI:3691293


Genotype
MGI:3691293
hm1
Allelic
Composition
Rb1cc1tm1.2Guan/Rb1cc1tm1.2Guan
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rb1cc1tm1.2Guan mutation (0 available); any Rb1cc1 mutation (84 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Defective heart and liver development in Rb1cc1tm1.2Guan/Rb1cc1tm1.2Guan embryos

mortality/aging
• embryonic lethality between E13.5 and E16.5, with 25% dead at E14.5 and 60% at E15.5; no live embryos are recovered after E15.5

cardiovascular system
• exhibit an approximate 33% reduction in mean cell size in the heart
• exhibit significantly increased apoptosis in the heart at E14.5 but not at E12.5
• sparsely cellular myocardium
• the thin myocardial wall is composed of wisps of thin trabecular myocardium
• heart ventricular wall has lost the normal trabecular and external compact myocytes
• in the most severely affected mutants, the myocardium is composed almost entirely of the trabecular layer with no appreciable compact layer beneath the epicardium
• wall is thinner and contains fewer myocytes
• exhibit multifocal variable sized hemorrhages in between the hepatic cords

liver/biliary system
• exhibit multifocal variable sized hemorrhages in between the hepatic cords
• exhibit significantly increased apoptosis in the liver at E14.5 and E15.5, predominantly in hepatocytes
• majority of E14.5 and E15.5 embryos exhibit liver lesions characterized by loosely arranged hepatocytes mixed with numerous red blood cells
• exhibit an approximate 25% reduction in mean cell size in the liver
• many hepatocyes have condensed nuclei (karyopyknosis), fragmented nuclei (karyorrhexis) or lost their nuclei (karyolysis)
• liver shows loss of hepatocytes
• exhibit liver lesions characterized by hepatocytes that are separated from each other

homeostasis/metabolism
• generalized edema

cellular
• MEFs exhibit decreased cell size compared to wild-type
• although MEFs under normal culture conditions do not show increased apoptosis, they do show increased susceptibility to TNFalpha-induced apoptosis
• exhibit significantly increased apoptosis in the liver at E14.5 and E15.5, predominantly in hepatocytes

muscle
• sparsely cellular myocardium
• the thin myocardial wall is composed of wisps of thin trabecular myocardium
• heart ventricular wall has lost the normal trabecular and external compact myocytes
• in the most severely affected mutants, the myocardium is composed almost entirely of the trabecular layer with no appreciable compact layer beneath the epicardium

integument
• about 20% of embryos are pale at E13.5 and by E14.5 and E15.5, majority of embryos are pale





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
11/19/2024
MGI 6.24
The Jackson Laboratory