Phenotypes associated with this allele

• Allele Symbol: Rb1^tm1Fad
• Allele Name: targeted mutation 1, Frederick A Dick
• Allele ID: MGI:3624796
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rb1^tm1Fad/Rb1^tm1Fad	involves: 129 * C57BL/6	MGI:3640141
cx2	Rb1^tm1Fad/Rb1^tm1Fad Tg(MMTVTGFB1)46Hlm/?	involves: 129 * C57BL/6 * DBA/2	MGI:4354285
cx3	Rb1^tm1Fad/Rb1^tm1Fad Tg(KRT14-HPV16E7)2304Plam/0	involves: 129 * C57BL/6 * FVB	MGI:3607130
cx4	Rb1^tm1Fad/Rb1^+ Tg(KRT14-HPV16E7)2304Plam/0	involves: 129 * C57BL/6 * FVB	MGI:3607131

Genotype
MGI:3640141

hm1

• Allelic Composition: Rb1^tm1Fad/Rb1^tm1Fad
• Genetic Background: involves: 129 * C57BL/6

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

cellular

abnormal chromosome morphology ( J:108366 )

• increase in the occurrence of chromosomes with fusions in the centromere region

aneuploidy ( J:108366 )

• increase in MEFs with greater than 4N DNA content

abnormal mitosis ( J:108366 )

• an increase in MEFs in G2/M phase and decrease of cells in G0/G1; however G1 is not shortened, transit through S and G2 is similar to wild-type, and the spindle check point appears normal

• the number of lagging chromosomes seen during anaphase is increased and metaphase spreads contain more chromosomes with fusions in the centromere region

endocrine/exocrine glands

abnormal milk ejection ( J:151417 )

♀ • some nursing mothers are unable to eject adequate supplies of milk

♀ • most pups die by two days of age due to insufficient nutrition

♀ • mammary glands have large, dilated ducts containing milk consisted with a defect in milk ejection

♀ • mice have similar lobuloalveolar formation and milk composition as controls

mammary gland duct hyperplasia ( J:151417 )

♀ • female mice have a significantly elevated frequency of hyperplastic ducts about 5-fold greater than controls

♀ • branching frequency and overall ductal morphogenesis appeared normal

mammary gland hyperplasia ( J:151417 )

♀ • mammary glands have hyperplastic growth throughout development

♀ • hyperplasia was characterized by increased luminal epithelial cell layers, as well as invagination of the epithelium into the lumen of the duct

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:151417 )

• embryonic fibroblasts fail to decrease proliferation in response to TGF-beta1

integument

abnormal milk ejection ( J:151417 )

♀ • some nursing mothers are unable to eject adequate supplies of milk

♀ • most pups die by two days of age due to insufficient nutrition

♀ • mammary glands have large, dilated ducts containing milk consisted with a defect in milk ejection

♀ • mice have similar lobuloalveolar formation and milk composition as controls

mammary gland duct hyperplasia ( J:151417 )

♀ • female mice have a significantly elevated frequency of hyperplastic ducts about 5-fold greater than controls

♀ • branching frequency and overall ductal morphogenesis appeared normal

mammary gland hyperplasia ( J:151417 )

♀ • mammary glands have hyperplastic growth throughout development

♀ • hyperplasia was characterized by increased luminal epithelial cell layers, as well as invagination of the epithelium into the lumen of the duct

behavior/neurological

abnormal milk ejection ( J:151417 )

♀ • some nursing mothers are unable to eject adequate supplies of milk

♀ • most pups die by two days of age due to insufficient nutrition

♀ • mammary glands have large, dilated ducts containing milk consisted with a defect in milk ejection

♀ • mice have similar lobuloalveolar formation and milk composition as controls

Genotype
MGI:4354285

cx2

• Allelic Composition: Rb1^tm1Fad/Rb1^tm1Fad; Tg(MMTVTGFB1)46Hlm/?
• Genetic Background: involves: 129 * C57BL/6 * DBA/2

endocrine/exocrine glands

mammary gland hyperplasia ( J:151417 )

♀ • mammary glands have hyperplastic growth throughout development

♀ • hyperplasia was characterized by increased luminal epithelial cell layers, as well as invagination of the epithelium into the lumen of the duct

♀ • this genotype demonstrates that mammary hyperplasia associated with Rb1^tm1Fad homozygotes still occurs in the presence of high levels of TGF-beta1

integument

mammary gland hyperplasia ( J:151417 )

♀ • mammary glands have hyperplastic growth throughout development

♀ • hyperplasia was characterized by increased luminal epithelial cell layers, as well as invagination of the epithelium into the lumen of the duct

♀ • this genotype demonstrates that mammary hyperplasia associated with Rb1^tm1Fad homozygotes still occurs in the presence of high levels of TGF-beta1

Genotype
MGI:3607130

cx3

• Allelic Composition: Rb1^tm1Fad/Rb1^tm1Fad; Tg(KRT14-HPV16E7)2304Plam/0
• Genetic Background: involves: 129 * C57BL/6 * FVB

cellular

cellular phenotype ( J:101623 )

N • after exposure to 5 Gy of ionizing radiation skin cells display normal cell cycle arrest unlike in mice hemizygous for Tg(KRT14-HPV16E7)2304Plam alone

integument

abnormal epidermis suprabasal layer morphology ( J:101623 )

• thickness of the spinous suprabasal cell layer is increased 30-50%; however, the thickness of the keratin 10- and filaggrin-positive layers is normal

• mice have normal gross skin morphology, normal growth and no signs of epidermal hyperplasia unlike in mice hemizygous for Tg(KRT14-HPV16E7)2304Plam alone

Genotype
MGI:3607131

cx4

• Allelic Composition: Rb1^tm1Fad/Rb1⁺; Tg(KRT14-HPV16E7)2304Plam/0
• Genetic Background: involves: 129 * C57BL/6 * FVB

cellular

cellular phenotype ( J:101623 )

N • after exposure to 5 Gy of ionizing radiation skin cells display normal cell cycle arrest unlike in mice hemizygous for Tg(KRT14-HPV16E7)2304Plam alone

integument

abnormal epidermis suprabasal layer morphology ( J:101623 )

• thickness of the spinous suprabasal cell layer is increased 30-50%; however, the thickness of the keratin 10- and filaggrin-positive layers is normal

• mice have normal gross skin morphology, normal growth and no signs of epidermal hyperplasia unlike in mice hemizygous for Tg(KRT14-HPV16E7)2304Plam alone