Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Cebpatm2Btp
Name:	CCAAT/enhancer binding protein alpha; targeted mutation 2, Bo Torben Porse
MGI ID:	MGI:5438639
Synonyms:	CebpaS248A
Gene:	Cebpa  Location: Chr7:34818718-34821353 bp, + strand  Genetic Position: Chr7, 21.02 cM
Alliance:	Cebpatm2Btp page

Germline Transmission:	Earliest citation of germline transmission: J:187834
Parent Cell Line:	E14.1 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted Mutations:    Insertion, Single point mutation   Mutation details: Nucleotide substitution results in the amino acid substitution of serine with alanine at position 247 (p.S247A). This mutation changes the residue in the encoded peptide from phosphorylatable to a phosphoblocker. (J:187834)

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

In Structures Affected by this Mutation:

1 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Cebpa Mutation:	16 strains or lines available

Original:	J:187834 Hasemann MS, et al., Phosphorylation of serine 248 of C/EBPalpha is dispensable for myelopoiesis but its disruption leads to a low penetrant myeloid disorder with long latency. PLoS One. 2012;7(6):e38841
All:	1 reference(s)