abnormal secondary sex determination Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description gonadal development may or may not be normal, and the phenotype of the animal outside the gonad does not match chromosomal sex or is ambiguous (Mammalian Phenotype Ontology, MP_0002212)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002212
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Genes

61 gene mutations causing the abnormal secondary sex determination phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTB actin, beta
ACVR2A activin A receptor, type IIA
AKAP12 A kinase (PRKA) anchor protein 12
AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor, type II
AR androgen receptor
CBX2 chromobox homolog 2
CD9 CD9 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CENPJ centromere protein J
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHST8 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8
COL1A1 collagen, type I, alpha 1
CSHL1 chorionic somatomammotropin hormone-like 1
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DHH desert hedgehog
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
EDA ectodysplasin A
FHL5 four and a half LIM domains 5
FKBP4 FK506 binding protein 4, 59kDa
FSHR follicle stimulating hormone receptor
GADD45G growth arrest and DNA-damage-inducible, gamma
GHR growth hormone receptor
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
INHBA inhibin, beta A
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX3 LIM homeobox 3
LHX9 LIM homeobox 9
LPIN1 lipin 1
MAGEL2 melanoma antigen family L2
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NCOA3 nuclear receptor coactivator 3
NHLH2 nescient helix loop helix 2
NOS3 nitric oxide synthase 3 (endothelial cell)
NPR2 natriuretic peptide receptor 2
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR2F2 nuclear receptor subfamily 2, group F, member 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
NUPR1 nuclear protein, transcriptional regulator, 1
OTX1 orthodenticle homeobox 1
PTS 6-pyruvoyltetrahydropterin synthase
RLN1 relaxin 1
RPL29 ribosomal protein L29
RSPO1 R-spondin 1
SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SP4 Sp4 transcription factor
SRY sex determining region Y
STAR steroidogenic acute regulatory protein
TCF21 transcription factor 21
UBE2D2 ubiquitin-conjugating enzyme E2D 2
UBE2Q1 ubiquitin-conjugating enzyme E2Q family member 1
VGF VGF nerve growth factor inducible
WNT4 wingless-type MMTV integration site family, member 4
WT1 Wilms tumor 1