×
Entrez Id:
64840
Gene Symbol:
PORCN
PORCN
Focal Dermal Hypoplasia
1.000
Biomarker
MGD
Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.
25451153
2015
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
1.000
Biomarker
MGD
We found that Cyfip2(+/-) mice exhibited behavioral phenotypes similar to Fmr1 -null (Fmr1 (-/y)) mice, an animal model of FXS .
25432536
2015
×
Entrez Id:
2632
Gene Symbol:
GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
Biomarker
MGD
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE ).
26385640
2015
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
Huntington Disease
1.000
Biomarker
MGD
Early white matter abnormalities, progressive brain pathology and motor deficits in a novel knock-in mouse model of Huntington's disease.
25609071
2015
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
MGD
To determine whether the truncated gene product acts as a dominant negative allele and if RTT -like phenotypes could be rescued by expression of wild-type protein, we genetically introduced an extra copy of MECP2 via an MECP2 transgene.
25634563
2015
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
MGD
LSD1 Neurospecific Alternative Splicing Controls Neuronal Excitability in Mouse Models of Epilepsy.
24735673
2015
×
Entrez Id:
7337
Gene Symbol:
UBE3A
UBE3A
Angelman Syndrome
1.000
Biomarker
MGD
Together, these findings suggest that Ube3a reinstatement early in development may be necessary to prevent or rescue most AS -associated phenotypes and should be considered in future clinical trial design.
25866966
2015
×
Entrez Id:
443
Gene Symbol:
ASPA
ASPA
Canavan Disease
1.000
Biomarker
MGD
Canavan disease (CD ) is a severe, lethal leukodystrophy caused by deficiency in aspartoacylase (ASPA ), which hydrolyzes N-acetylaspartate (NAA).
26511242
2015
×
Entrez Id:
55636
Gene Symbol:
CHD7
CHD7
CHARGE Syndrome
1.000
Biomarker
MGD
Heterozygous mutations in CHD7 cause CHARGE syndrome in 70% to 90% of patients.
26670829
2015
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
Biomarker
MGD
A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation.
25647322
2015
×
Entrez Id:
4645
Gene Symbol:
MYO5B
MYO5B
Microvillus inclusion disease
1.000
Biomarker
MGD
Myo5b knockout mice closely resemble the phenotype of MVID patients and constitute a useful model to further investigate the underlying molecular mechanism of this disease and to preclinically assess the efficacy of novel therapeutic approaches.
26201991
2015
×
Entrez Id:
2731
Gene Symbol:
GLDC
GLDC
Nonketotic Hyperglycinemia
1.000
Biomarker
MGD
GLDC mutations cause a rare recessive disease non-ketotic hyperglycinemia (NKH ).
25736695
2015
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
Central Core Myopathy (disorder)
1.000
Biomarker
MGD
Potassium dependent rescue of a myopathy with core-like structures in mouse.
25564733
2015
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000
Biomarker
MGD
We aimed to elucidate arrhythmia mechanisms in a RyR2 -linked CPVT mutation (RyR2 -A4860G) that depresses channel activity.
25775566
2015
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Episodic ataxia type 2 (disorder)
1.000
Biomarker
MGD
The Ca(2+) channelopathies caused by mutations of the CACNA1A gene that encodes the pore-forming subunit of the human Cav2.1 (P/Q-type) voltage-gated Ca(2+) channel include episodic ataxia type 2 (EA2 ).
25855180
2015
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
Biomarker
MGD
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
25394388
2015
×
Entrez Id:
23400
Gene Symbol:
ATP13A2
ATP13A2
KUFOR-RAKEB SYNDROME
1.000
Biomarker
MGD
KRS is caused by recessive loss-of-function mutations in the ATP13A2 gene encoding the endolysosomal ATPase ATP13A2 .
25855184
2015
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
1.000
Biomarker
MGD
The purpose of the present work was to progress in our understanding of the pathophysiology of L-2-hydroxyglutaric aciduria , due to a defect in L-2-hydroxyglutarate dehydrogenase , by creating and studying a mouse model of this disease.
25763823
2015
×
Entrez Id:
23209
Gene Symbol:
MLC1
MLC1
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
1.000
Biomarker
MGD
Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.
25382142
2015
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
MGD
A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.
25468678
2015
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
1.000
Biomarker
MGD
An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice.
25048459
2014
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
1.000
Biomarker
MGD
We document that retinal function is altered in Fmr1 KO mice, a model of human Fragile X Syndrome .
25153086
2014
×
Entrez Id:
178
Gene Symbol:
AGL
AGL
Glycogen Storage Disease Type III
1.000
Biomarker
MGD
Mouse model of glycogen storage disease type III.
24613482
2014
×
Entrez Id:
178
Gene Symbol:
AGL
AGL
Glycogen Storage Disease Type III
1.000
Biomarker
MGD
Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme , encoded by AGL .
25092169
2014
×
Entrez Id:
4942
Gene Symbol:
OAT
OAT
Gyrate Atrophy
1.000
Biomarker
MGD
The retarded hair growth (rhg ) mutation in mice is an allele of ornithine aminotransferase (Oat ).
25264521
2014