All Phenotypes E2f1<tm1Njd> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	E2f1^tm1Njd/E2f1^tm1Njd	involves: 129S2/SvPas * C57BL/6	MGI:3840273
hm2	E2f1^tm1Njd/E2f1^tm1Njd	involves: 129S2/SvPas * SKH1	MGI:3840838
cx3	E2f1^tm1Njd/E2f1⁺ Rb1^tm1Tyj/Rb1⁺	either: 129S2/SvPas or (involves: 129S2/SvPas * C57BL/6)	MGI:3840352
cx4	E2f1^tm1Njd/E2f1^tm1Njd Rb1^tm1Tyj/Rb1^tm1Tyj	either: 129S2/SvPas or (involves: 129S2/SvPas * C57BL/6)	MGI:3840350
cx5	E2f1^tm1Njd/E2f1⁺ Rb1^tm1Tyj/Rb1^tm1Tyj	either: 129S2/SvPas or (involves: 129S2/SvPas * C57BL/6)	MGI:3840351
cx6	E2f1^tm1Njd/E2f1^tm1Njd Rb1^tm1Tyj/Rb1⁺	either: 129S2/SvPas or (involves: 129S2/SvPas * C57BL/6)	MGI:3840353
cx7	E2f1^tm1Njd/E2f1^tm1Njd E2f3^tm1Lees/E2f3^tm1Lees	involves: 129S2/SvPas	MGI:3840609
cx8	E2f1^tm1Njd/E2f1⁺ E2f3^tm1Lees/E2f3^tm1Lees	involves: 129S2/SvPas	MGI:3840607
cx9	E2f1^tm1Njd/E2f1^tm1Njd E2f3^tm1Lees/E2f3⁺	involves: 129S2/SvPas	MGI:3840610
cx10	E2f1^tm1Njd/E2f1^tm1Njd E2f3^tm2Lees/E2f3^tm2Lees	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6	MGI:3840227
cx11	E2f1^tm1Njd/E2f1^tm1Njd E2f3^tm3Lees/E2f3^tm3Lees	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6	MGI:3840229
cx12	E2f1^tm1Njd/E2f1^tm1Njd Klhl40^tm1.1Itl/Klhl40^tm1.1Itl	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6N	MGI:5770003
cx13	E2f1^tm1Njd/E2f1^tm1Njd Trp53^tm1Brd/Trp53^tm1Brd	involves: 129S2/SvPas * 129S7/SvEvBrd * SKH1	MGI:3840839

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

respiratory system

increased lung non-small cell carcinoma incidence ( J:33099 )

increased lung adenocarcinoma incidence ( J:33099 )

reproductive system

seminiferous tubule degeneration ( J:33099 )

• empty and degenerating tubules by 9 months becoming more obvious by 12 months

increased Leydig cell number ( J:33099 )

• interstitial cells are more numerous than normal at 2.5 months

• cell numbers remain stable or increase somewhat with age

decreased testis weight ( J:33099 )

• testis weights average 44% of controls and only 10% in most extreme instances

testicular atrophy ( J:33099 )

• seen between 9 and 15 months

increased reproductive system tumor incidence ( J:33099 )

• about 1/3 of tumors are found in the reproductive tract

• epididymal tumors between the ducts in space normally occupied by smooth muscle or connective tissue

• endometrial stroma sarcomas

endocrine/exocrine glands

abnormal gland morphology ( J:89720 )

abnormal salivary gland morphology ( J:33099 )

• histology deteriorates with age

• decrease in overall size of the salivary gland complex with age

• notably, mucous cells of the sublingual gland appear normal

abnormal parotid gland morphology ( J:33099 )

• abnormally large and swollen cell nuclei and many binucleate cells

• cells producing amylase are abnormal

abnormal submandibular gland morphology ( J:33099 )

• abnormally large and swollen cell nuclei and many binucleate cells

• abnormalities restricted to mucous cells

• serous cells are normal

• fewer mucous acini compared to serous acini despite an increase in the size of individual mucous cells

abnormal exorbital lacrimal gland morphology ( J:33099 )

• cells with enlarged nuclei

abnormal pancreas morphology ( J:89720 )

abnormal exocrine pancreas morphology ( J:33099 )

• similar abnormalities to salivary glands

• cells with enlarged or doubled nuclei

• histology deteriorates with age

• decrease in size with age

abnormal pancreatic islet morphology ( J:89720 )

• ratio of glucagon secreting to insulin secreting cells normal at 4 weeks of age

• ratio of glucagon secreting to insulin secreting cells elevated at 16 weeks

• ratio of alpha to beta cells is increased

abnormal pancreatic beta cell morphology ( J:89720 )

• total beta cell area is reduced

decreased pancreatic islet number ( J:89720 )

• relative to body weight

small pancreatic islets ( J:89720 )

• reduced cross-sectional area relative to body weight

decreased pancreas weight ( J:89720 )

• disproportionately greater reduction than body weight

seminiferous tubule degeneration ( J:33099 )

• empty and degenerating tubules by 9 months becoming more obvious by 12 months

increased Leydig cell number ( J:33099 )

• interstitial cells are more numerous than normal at 2.5 months

• cell numbers remain stable or increase somewhat with age

decreased testis weight ( J:33099 )

• testis weights average 44% of controls and only 10% in most extreme instances

testicular atrophy ( J:33099 )

• seen between 9 and 15 months

decreased insulin secretion ( J:89720 )

• isolated islets release significantly reduced but nevertheless robust levels of insulin

growth/size/body

decreased body weight ( J:33099 , J:89720 )

• body weight more or less normal up to 8.7 months (J:33099)

• considerable weight loss in 12-15 month old animals (J:33099)

neoplasm

increased metastatic potential ( J:33099 )

• sarcomas are very metastatic

increased tumor incidence ( J:33099 )

• up to 34% of homozygotes have tumors by 15 months of age

increased lymphoma incidence ( J:33099 )

• develop between 12.5 and 16.5 months of age

• lymphoproliferative syndrome develops in a small number of females between 8 and 15 months

• often leads to death

• involves enlarged lymph nodes, splenomegaly, glomerulonephritis, anemia (hematocrits of 8-15%)

increased histiocytic sarcoma incidence ( J:33099 )

increased lung non-small cell carcinoma incidence ( J:33099 )

increased lung adenocarcinoma incidence ( J:33099 )

increased reproductive system tumor incidence ( J:33099 )

• about 1/3 of tumors are found in the reproductive tract

• epididymal tumors between the ducts in space normally occupied by smooth muscle or connective tissue

• endometrial stroma sarcomas

digestive/alimentary system

abnormal exocrine pancreas morphology ( J:33099 )

• similar abnormalities to salivary glands

• cells with enlarged or doubled nuclei

• histology deteriorates with age

• decrease in size with age

abnormal salivary gland morphology ( J:33099 )

• histology deteriorates with age

• decrease in overall size of the salivary gland complex with age

• notably, mucous cells of the sublingual gland appear normal

abnormal parotid gland morphology ( J:33099 )

• abnormally large and swollen cell nuclei and many binucleate cells

• cells producing amylase are abnormal

abnormal submandibular gland morphology ( J:33099 )

• abnormally large and swollen cell nuclei and many binucleate cells

• abnormalities restricted to mucous cells

• serous cells are normal

• fewer mucous acini compared to serous acini despite an increase in the size of individual mucous cells

vision/eye

abnormal exorbital lacrimal gland morphology ( J:33099 )

• cells with enlarged nuclei

adipose tissue

decreased total body fat amount ( J:89720 )

• reduced total body fat mass

abnormal fat cell differentiation ( J:89720 )

• impaired adipocyte differentiation

increased adipocyte glucose uptake ( J:89720 )

• more efficient

homeostasis/metabolism

decreased insulin secretion ( J:89720 )

• isolated islets release significantly reduced but nevertheless robust levels of insulin

decreased circulating glucose level ( J:89720 )

• fasting glucose levels lower than in controls

abnormal circulating insulin level ( J:89720 )

• insulin levels do not increase in a glucose tolerance test

decreased circulating insulin level ( J:89720 )

• fasting insulin levels lower than controls

impaired glucose tolerance ( J:89720 )

• reduced glucose clearance in a glucose tolerance test

increased insulin sensitivity ( J:89720 )

cellular

abnormal fat cell differentiation ( J:89720 )

• impaired adipocyte differentiation

increased adipocyte glucose uptake ( J:89720 )

• more efficient

Allelic Composition	E2f1^tm1Njd/E2f1^tm1Njd
Genetic Background	involves: 129S2/SvPas * SKH1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1^tm1Njd mutation (1 available); any E2f1 mutation (28 available)

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

integument

increased sensitivity to skin irradiation ( J:97525 )

• increased sensitivity to UVB than controls at lower doses

• increased apoptotic response

Allelic Composition	E2f1^tm1Njd/E2f1⁺ Rb1^tm1Tyj/Rb1⁺
Genetic Background	either: 129S2/SvPas or (involves: 129S2/SvPas * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1^tm1Njd mutation (1 available); any E2f1 mutation (28 available)
Rb1^tm1Tyj mutation (5 available); any Rb1 mutation (111 available)

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

mortality/aging

premature death ( J:47108 )

• increased survival relative to Rb1^tm1Tyj heterozygotes, 11.6 months on a 129 background and up to 12.6 months on a mixed background

neoplasm

increased tumor incidence ( J:47108 )

• develop grossly detectable pituitary tumors

increased thyroid adenoma incidence ( J:47108 )

• fewer thyroid C-cell adenomas than in Rb1^tm1Tyj heterozygotes

endocrine/exocrine glands

increased thyroid adenoma incidence ( J:47108 )

• fewer thyroid C-cell adenomas than in Rb1^tm1Tyj heterozygotes

Allelic Composition	E2f1^tm1Njd/E2f1^tm1Njd Rb1^tm1Tyj/Rb1^tm1Tyj
Genetic Background	either: 129S2/SvPas or (involves: 129S2/SvPas * C57BL/6)

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

mortality/aging

prenatal lethality, complete penetrance ( J:47108 )

• no double homozygotes recovered after birth

Allelic Composition	E2f1^tm1Njd/E2f1⁺ Rb1^tm1Tyj/Rb1^tm1Tyj
Genetic Background	either: 129S2/SvPas or (involves: 129S2/SvPas * C57BL/6)

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

mortality/aging

prenatal lethality, complete penetrance ( J:47108 )

• no mice of this genotype recovered after birth

Allelic Composition	E2f1^tm1Njd/E2f1^tm1Njd Rb1^tm1Tyj/Rb1⁺
Genetic Background	either: 129S2/SvPas or (involves: 129S2/SvPas * C57BL/6)

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

mortality/aging

premature death ( J:47108 )

• increased survival relative to Rb1^tm1Tyj heterozygotes, 15.2 months on a 129 background and up to 17 months on a mixed background

neoplasm

increased pituitary gland tumor incidence ( J:47108 )

• only about 62% develop pituitary tumors

• pituitary tumors are smaller than Rb1^tm1Tyj heterozygotes but histologically indistinguishable

increased thyroid adenoma incidence ( J:47108 )

• fewer thyroid C-cell adenomas than in Rb1^tm1Tyj heterozygotes

increased hemangioma incidence ( J:47108 )

endocrine/exocrine glands

adrenal medulla hyperplasia ( J:47108 )

increased pituitary gland tumor incidence ( J:47108 )

• only about 62% develop pituitary tumors

• pituitary tumors are smaller than Rb1^tm1Tyj heterozygotes but histologically indistinguishable

abnormal thyroid gland morphology ( J:47108 )

• thyroid gland degeneration after 14 months of age

increased thyroid adenoma incidence ( J:47108 )

• fewer thyroid C-cell adenomas than in Rb1^tm1Tyj heterozygotes

reproductive system

uterine hemorrhage ( J:47108 )

cardiovascular system

uterine hemorrhage ( J:47108 )

nervous system

increased pituitary gland tumor incidence ( J:47108 )

• only about 62% develop pituitary tumors

• pituitary tumors are smaller than Rb1^tm1Tyj heterozygotes but histologically indistinguishable

Allelic Composition	E2f1^tm1Njd/E2f1^tm1Njd E2f3^tm1Lees/E2f3^tm1Lees
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1^tm1Njd mutation (1 available); any E2f1 mutation (28 available)
E2f3^tm1Lees mutation (1 available); any E2f3 mutation (33 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:75765 )

• die between E9.5 and E10.5

• embryos normal at E9.5

• much smaller than littermates at E10.5

Allelic Composition	E2f1^tm1Njd/E2f1⁺ E2f3^tm1Lees/E2f3^tm1Lees
Genetic Background	involves: 129S2/SvPas

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:75765 )

• mice do not survive to E18.5 but are present at E13.5

Allelic Composition	E2f1^tm1Njd/E2f1^tm1Njd E2f3^tm1Lees/E2f3⁺
Genetic Background	involves: 129S2/SvPas

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

growth/size/body

slow postnatal weight gain ( J:75765 )

• surviving mice fail to gain weight at the same rate as littermates

reproductive system

testicular atrophy ( J:75765 )

• exacerbated

• no loss of leydig cells

endocrine/exocrine glands

testicular atrophy ( J:75765 )

• exacerbated

• no loss of leydig cells

Allelic Composition	E2f1^tm1Njd/E2f1^tm1Njd E2f3^tm2Lees/E2f3^tm2Lees
Genetic Background	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1^tm1Njd mutation (1 available); any E2f1 mutation (28 available)
E2f3^tm2Lees mutation (0 available); any E2f3 mutation (33 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:147270 )

• significantly reduced survival to weaning

• normal numbers at birth

• most mortality is in the neonatal period

growth/size/body

decreased body weight ( J:147270 )

• double homozygotes weight about 1/3 of controls

skeleton

abnormal cartilage morphology ( J:147270 )

• mature cartilage present

abnormal long bone epiphyseal plate morphology ( J:147270 )

• chondrocytes disorganized

• stacked structures are not seen in femurs

abnormal chondrocyte morphology ( J:147270 )

• abnormal morphology

• 1.5-2 fold larger than normal in resting, columnar, and hypertrophic zones

• increased variability in size

cellular

abnormal cell cycle ( J:147270 )

• MEFs in culture sometimes display impaired re-entry into the cell cycle

decreased cell proliferation ( J:147270 )

• impaired asynchronous proliferation of MEFs in culture

Allelic Composition	E2f1^tm1Njd/E2f1^tm1Njd E2f3^tm3Lees/E2f3^tm3Lees
Genetic Background	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1^tm1Njd mutation (1 available); any E2f1 mutation (28 available)
E2f3^tm3Lees mutation (0 available); any E2f3 mutation (33 available)

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

normal phenotype

no abnormal phenotype detected ( J:147270 )

• no affect on viability to weaning

• fertility is normal

Allelic Composition	E2f1^tm1Njd/E2f1^tm1Njd Klhl40^tm1.1Itl/Klhl40^tm1.1Itl
Genetic Background	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1^tm1Njd mutation (1 available); any E2f1 mutation (28 available)
Klhl40^tm1.1Itl mutation (0 available); any Klhl40 mutation (26 available)

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

mortality/aging

mortality/aging ( J:227534 )

N	• mice are born viable and survive weaning

growth/size/body

decreased body size ( J:227534 )

Allelic Composition	E2f1^tm1Njd/E2f1^tm1Njd Trp53^tm1Brd/Trp53^tm1Brd
Genetic Background	involves: 129S2/SvPas * 129S7/SvEvBrd * SKH1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1^tm1Njd mutation (1 available); any E2f1 mutation (28 available)
Trp53^tm1Brd mutation (5 available); any Trp53 mutation (244 available)

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

integument

increased sensitivity to skin irradiation ( J:97525 )

• increased apoptosis response to UVB

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