Ep300^tm1Pkb
Targeted Allele Detail

Summary

• Symbol: Ep300^tm1Pkb
• Name: E1A binding protein p300; targeted mutation 1, Paul K Brindle
• MGI ID: MGI:3578128
• Synonyms: p300^KIX
• Gene: Ep300 Location: Chr15:81470329-81536273 bp, + strand Genetic Position: Chr15, 38.16 cM
• Alliance: Ep300^tm1Pkb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:98329
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A floxed neomycin selection cassette was inserted upstream of the exon encoding the KIX domain and the KIX containing exon itself was mutated so that the tyrosine at amino acid residue 630 became alanine, the alanine at residue 634 became glutamine and the tyrosine at residue 638 became alanine (Y630A, A634Q and Y638A). Transient cre expression then excised the selection cassette. Expression and stability of the mutated product were normal. (J:98329)

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	Ep300^tm1Pkb/Ep300^tm1Pkb	involves: 129P2/OlaHsd * C57BL/6
ht2	Ep300^tm1Pkb/Ep300^+	involves: 129P2/OlaHsd * C57BL/6
cx3	Ep300^tm1Pkb/Ep300^+ Myb^tm1Ssp/Myb^+	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Phenotypes:

Affected Systems	hm1	ht2	cx3
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endocrine/exocrine glands	√		√
decreased thymocyte number	√		√
growth/size/body	√
decreased body size	√
hematopoietic system	√	√	√
decreased thymocyte number	√		√
anemia	√
abnormal megakaryocyte morphology			√
increased megakaryocyte cell number	√
abnormal erythrocyte morphology	√
anisocytosis	√
thrombocytosis	√	√	√
immune system	√		√
decreased thymocyte number	√		√
mortality/aging	√
postnatal lethality, incomplete penetrance	√

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

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Ep300 Mutation: 98 strains or lines available

References

• Original: J:98329 Kasper LH, et al., A transcription-factor-binding surface of coactivator p300 is required for haematopoiesis. Nature. 2002 Oct 17;419(6908):738-43
• All: 3 reference(s)