E2f4^tm1Lees
Targeted Allele Detail

Summary

• Symbol: E2f4^tm1Lees
• Name: E2F transcription factor 4; targeted mutation 1, Jacqueline A Lees
• MGI ID: MGI:1888952
• Synonyms: E2f4^-
• Gene: E2f4 Location: Chr8:106024295-106032002 bp, + strand Genetic Position: Chr8, 53.04 cM
• Alliance: E2f4^tm1Lees page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:64193
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The gene was rendered inactive by the introduction of termination codons in all three open-reading frames after the fourth codon and the replacement with a PGK-neo cassette for the genomic sequences responsible for DNA binding and dimerization. (J:64193)
• Inheritance: Semidominant

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	E2f4^tm1Lees/E2f4^tm1Lees	involves: 129S2/SvPas * C57BL/6
cx2	E2f4^tm1Lees/E2f4^+ E2f5^tm1Dli/E2f5^tm1Dli	involves: 129S1/Sv * 129S4/SvJae * C57BL/6
cx3	E2f4^tm1Lees/E2f4^tm1Lees Rb1^tm1Tyj/Rb1^+	involves: 129S2/SvPas * C57BL/6
cx4	E2f4^tm1Lees/E2f4^+ Rb1^tm1Tyj/Rb1^+	involves: 129S2/SvPas * C57BL/6

Phenotypes:

Affected Systems	hm1		cx2	cx3	cx4
show or hide all annotated terms Sex:
behavior/neurological	√	√
abnormal food intake	√	√
abnormal vocalization	√	√
craniofacial	√	√
abnormal turbinate morphology	√	√
abnormal nasal cavity morphology	√	√
abnormal olfactory epithelium morphology	√	√
broad snout	√	√
short snout	√	√
digestive/alimentary system	√	√
abnormal intestine morphology	√	√
embryo	√	√
embryonic growth retardation	√	√
endocrine/exocrine glands			√		√
increased pituitary gland tumor incidence					√
increased thyroid tumor incidence					√
dilated seminiferous tubule			√
growth/size/body	√	√
abnormal turbinate morphology	√	√
abnormal nasal cavity morphology	√	√
abnormal olfactory epithelium morphology	√	√
broad snout	√	√
short snout	√	√
embryonic growth retardation	√	√
decreased body size	√	√
decreased body weight	√	√
hearing/vestibular/ear	√	√
abnormal middle ear morphology	√	√
increased susceptibility to otitis media	√	√
hematopoietic system	√	√
abnormal stress erythropoiesis	√	√
anemia	√	√
abnormal proerythroblast morphology	√	√
decreased erythrocyte cell number	√	√
decreased hematocrit	√	√
increased nucleated erythrocyte cell number	√	√
anisocytosis	√	√
increased number of Howell-Jolly bodies	√	√
macrocytosis	√	√
reticulocytosis	√	√
homeostasis/metabolism	√	√
dehydration	√	√
immune system	√	√		√
increased susceptibility to otitis media	√	√
rhinitis	√	√
increased susceptibility to infection				√
increased susceptibility to bacterial infection	√	√
integument	√	√
pallor	√	√
mortality/aging	√	√		√	√
premature death				√	√
postnatal lethality, incomplete penetrance	√	√
neoplasm				√	√
increased pituitary gland tumor incidence					√
increased thyroid tumor incidence					√
decreased tumor incidence				√
nervous system					√
increased pituitary gland tumor incidence					√
reproductive system	√	√	√
dilated seminiferous tubule			√
reduced female fertility	√
reduced male fertility		√
respiratory system	√	√
abnormal turbinate morphology	√	√
abnormal nasal cavity morphology	√	√
abnormal olfactory epithelium morphology	√	√
rhinitis	√	√
skeleton	√	√
abnormal turbinate morphology	√	√
taste/olfaction	√	√
abnormal olfactory epithelium morphology	√	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1
otitis media IDs otitis media       DOID:10754 ICD10CM:H66.9 ICD9CM:382.9 MESH:D010033 NCI:C34885 UMLS_CUI:C0029882 Close	√

Expression

In Mice Carrying this Mutation:	39 assay results 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	9 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying E2f4^tm1Lees

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any E2f4 Mutation: 21 strains or lines available

References

• Original: J:64193 Humbert PO, et al., E2F4 is essential for normal erythrocyte maturation and neonatal viability. Mol Cell. 2000 Aug;6(2):281-91
• All: 12 reference(s)