RGD Reference Report - Cryptorchidism and infertility in rats with targeted disruption of the Adamts16 locus. - Rat Genome Database

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Cryptorchidism and infertility in rats with targeted disruption of the Adamts16 locus.

Authors: Abdul-Majeed, Shakila  Mell, Blair  Nauli, Surya M  Joe, Bina 
Citation: Abdul-Majeed S, etal., PLoS One. 2014 Jul 1;9(7):e100967. doi: 10.1371/journal.pone.0100967. eCollection 2014.
RGD ID: 13434925
Pubmed: PMID:24983376   (View Abstract at PubMed)
PMCID: PMC4077762   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pone.0100967   (Journal Full-text)

A Disintegrin And Metalloproteinase with ThromboSpondin motifs16 (ADAMTS-16) is a member of a family of metalloproteinases. Using a novel zinc-finger nuclease based gene-edited rat model harboring a targeted mutation of the Adamts16 locus, we previously reported this gene to be linked to blood pressure regulation. Here we document our observation with this model that Adamts16 is essential for normal development of the testis. Absence of Adamts16 in the homozygous Adamts16mutant males resulted in cryptorchidism and male sterility. Heterozygous Adamts16mutant males were normal, indicating that this is a recessive trait. Testes of homozygous Adamts16mutant males were significantly smaller with significant histological changes associated with the lack of sperm production. Temporal histological assessments of the testis demonstrated that the seminiferous tubules did not support active spermatogenesis, but progressively lost germ cells, accumulated vacuoles and did not have any sperm. These observations, taken together with our previous report of renal abnormalities observed with the same Adamts16mutant rats, suggest an important mechanistic link between Adamts16 and the functioning of the male genitourinary system.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cryptorchidism  ISOAdamts16 (Rattus norvegicus)13434925; 13434925 RGD 
cryptorchidism  IMP 13434925; 13434925 RGD 
cryptorchidism MODEL: spontaneousIMP 13434925 RGD 
male infertility  ISOAdamts16 (Rattus norvegicus)13434925; 13434925 RGD 
male infertility  IMP 13434925; 13434925 RGD 
male infertility MODEL: spontaneousIMP 13434925 RGD 

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
male gamete generation  IMP 13434925 RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
small testis  IMP 13434925; 13434925; 13434925 RGD 
Objects Annotated

Genes (Rattus norvegicus)
Adamts16  (ADAM metallopeptidase with thrombospondin type 1 motif, 16)
Adamts16em1Bj  (ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj)

Genes (Mus musculus)
Adamts16  (ADAM metallopeptidase with thrombospondin type 1 motif 16)

Genes (Homo sapiens)
ADAMTS16  (ADAM metallopeptidase with thrombospondin type 1 motif 16)

Strains
SS-Adamts16em1Bj  (NA)


Additional Information