Human Disease and Mouse Model Detail

Human Disease

Term: Rett Syndrome; RTT
OMIM ID: 312750

Synonyms

RTS

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Mecp2

MECP2

...both mouse and human orthologous genes.

Bdnf

BDNF

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Bdnf^tm3Jae/Bdnf^tm3Jae Mecp2^tm1.1Jae/Y Tg(Camk2a-cre)93Kln/0	2	involves: 129S4/SvJae * C57BL/6 * CBA/J	J:106973
Mecp2^tm1.1Bird/Y		involves: 129P2/OlaHsd * C57BL/6	J:67910, J:165306
Mecp2^tm1.1Bird/Mecp2⁺		involves: 129P2/OlaHsd * C57BL/6	J:67910
Mecp2^tm1.1Bird/Mecp2^tm1.1Bird		involves: 129P2/OlaHsd * C57BL/6	J:67910
Mecp2^tm1.1Jae/Mecp2⁺		involves: 129S4/SvJae * BALB/c * C57BL/6	J:181342
Mecp2^tm1.1Jae/Y		involves: 129S4/SvJae * C57BL/6	J:106973
Mecp2^tm1.1Jae/Y		involves: 129S4/SvJae * BALB/c * C57BL/6	J:67909
Mecp2^tm1.1Joez/Y		B6.129-Mecp2^tm1.1Joez	J:181311
Mecp2^tm1Bird/Y Tg(Nes-cre)1Kln/0	2	involves: 129P2/OlaHsd * C57BL/6 * SJL	J:67910
Mecp2^tm1Bird/Y		(129S6.129P2-Mecp2^tm1Bird x FVB/N)F1	J:135825
Mecp2^tm1Bird/Y		(129S6.129P2-Mecp2^tm1Bird x C57BL/6)F1	J:135825
Mecp2^tm1Hzo/Mecp2⁺		129S7/SvEvBrd-Mecp2^tm1Hzo	J:78009
Mecp2^tm1Hzo/Y		129S7/SvEvBrd-Mecp2^tm1Hzo	J:78009
Mecp2^tm1Hzo/Y		involves: 129S7/SvEvBrd * C57BL/6J	J:78009
Mecp2^tm1Jae/Y Tg(Nes-cre)1Atp/0	2	involves: 129S4/SvJae * BALB/c * C57BL/6 * FVB/N	J:67909
Mecp2^tm1Jae/Y Tg(Camk2a-cre)93Kln/0	2	involves: 129S4/SvJae * BALB/c * C57BL/6 * CBA/J	J:67909
Mecp2^tm1Vnar/Y		involves: 129S1/Sv * 129X1/SvJ * C57BL/6NCrl	J:171410
Mecp2^tm2Bird/Mecp2⁺		involves: 129P2/OlaHsd * C57BL/6	J:118365

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Conditionally targeted allele(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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