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

Symbol:	Mecp2tm1Jchr
Name:	methyl CpG binding protein 2; targeted mutation 1, John Christodoulou
MGI ID:	MGI:3583768
Gene:	Mecp2  Location: ChrX:73070198-73129296 bp, - strand  Genetic Position: ChrX, 37.63 cM
Alliance:	Mecp2tm1Jchr page

Germline Transmission:	Earliest citation of germline transmission: J:99561
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A loxP site flanked neomycin resistance gene cassette replaced the coding sequence for the methyl-binding domain. RT-PCR of mutants confirmed no transcript was present for this coding region. (J:99561)

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

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 Mecp2 Mutation:	38 strains or lines available

Original:	J:99561 Weaving LS, et al., Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet. 2004 Dec;75(6):1079-93
All:	1 reference(s)