Phenotypes associated with this allele

• Allele Symbol: Rb1^tm2.1Fad
• Allele Name: targeted mutation 2.1, Frederick A Dick
• Allele ID: MGI:5614046
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rb1^tm2.1Fad/Rb1^tm2.1Fad	involves: 129 * C57BL/6	MGI:5614089
cx2	E2f1^tm1Meg/E2f1^tm1Meg Rb1^tm2.1Fad/Rb1^tm2.1Fad	involves: 129S4/SvJae * C57BL/6	MGI:5614090

Genotype
MGI:5614089

hm1

• Allelic Composition: Rb1^tm2.1Fad/Rb1^tm2.1Fad
• Genetic Background: involves: 129 * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, incomplete penetrance ( J:215358 )

• half of mice die after birth

• defective skeletal muscle correlates with poor survival

• however, surviving mice have normal life expectancy

respiratory system

respiratory distress ( J:215358 )

• some mice struggle to breath at birth

muscle

skeletal muscle atrophy ( J:215358 )

• at E18.5 without an increase in proliferation

• atrophy is observed in the diaphragm

• defective skeletal muscle correlates with poor survival

• however, the defect is unlikely to be caused by cell cycle arrest

integument

mammary gland duct hyperplasia ( J:215358 )

• with additional layers of epithelium

• however, female mice are able to nurse their pups

digestive/alimentary system

digestive/alimentary phenotype ( J:215358 )

N • intestinal epithelium is normal

cellular

cellular phenotype ( J:215358 )

N • under serum deprivation conditions, asynchronous mouse embryonic fibroblasts exhibit normal cell cycle progression and proliferation rates

nervous system

nervous system phenotype ( J:215358 )

N • pituitary glands exhibit no evidence of hyperplasia at 8 to 11 months

neoplasm

neoplasm ( J:215358 )

N • mice are tumor free beyond 1.5 years of life

endocrine/exocrine glands

mammary gland duct hyperplasia ( J:215358 )

• with additional layers of epithelium

• however, female mice are able to nurse their pups

Genotype
MGI:5614090

cx2

• Allelic Composition: E2f1^tm1Meg/E2f1^tm1Meg; Rb1^tm2.1Fad/Rb1^tm2.1Fad
• Genetic Background: involves: 129S4/SvJae * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:215358 )

• fewer than expected mice are present at P14

neoplasm

neoplasm ( J:215358 )

N • mice are tumor free beyond 1.5 years of life

cellular

cellular phenotype ( J:215358 )

N • serum-starved fibroblasts exhibit normal cell cycle