Phenotype: absent testes

Definition
absence of the male reproductive glands containing the germ cells
Synonyms
anorchism,  anorchia,  congenital absence of both testes,  bilateral testicular aplasia,  bilateral testicular agenesis,  male agonadism,  anorchidism
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with absent testes

Total number of significant genotype-phenotype associations: 7

Gene / Allele Zygosity Sex Life Stage Phenotype Parameter Phenotyping
Center
P Value
Fkbp4
Fkbp4em1(IMPC)Mbp
HOM Early adult absent testes Testes
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Gja10
Gja10em2(IMPC)Mbp
HOM Early adult absent testes Testes
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Kiss1r
Kiss1rtm1.1(KOMP)Vlcg
HOM Early adult absent testes Testes
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Nhlh2
Nhlh2tm1b(KOMP)Mbp
HOM Early adult absent testes Testes
Gross Pathology and Tissue Collection
UC Davis
IMPC
0.00
Penk
Penktm1(KOMP)Mbp
HOM Early adult absent testes Testes
Gross Pathology and Tissue Collection
RBRC
IMPC
0.00
Xiap
Xiaptm1a(EUCOMM)Hmgu
HOM Early adult absent testes testis presence
Dysmorphology
ICS
EuroPhenome
3.83×10-11
Pgd
Pgdtm1a(EUCOMM)Wtsi
HET Early adult absent testes testis presence
Dysmorphology
ICS
EuroPhenome
6.88×10-07

Download data as:   TSV   XLS

 The way we measure

Procedure
Dysmorphology

 Phenotype associations stats

2.46% of tested genes with null mutations on a B6N genetic background have a phenotype association to absent testes (7/284)

0.74% females (2/271) 1.79% males (5/279)

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