RGD Reference Report - The ter mutation in the rat Dnd1 gene initiates gonadal teratomas and infertility in both genders. - Rat Genome Database

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The ter mutation in the rat Dnd1 gene initiates gonadal teratomas and infertility in both genders.

Authors: Northrup, Emily  Zschemisch, Nils-Holger  Eisenblätter, Regina  Glage, Silke  Wedekind, Dirk  Cuppen, Edwin  Dorsch, Martina  Hedrich, Hans-Jürgen 
Citation: Northrup E, etal., PLoS One. 2012;7(5):e38001. doi: 10.1371/journal.pone.0038001. Epub 2012 May 24.
RGD ID: 40924659
Pubmed: PMID:22655094   (View Abstract at PubMed)
PMCID: PMC3360017   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pone.0038001   (Journal Full-text)

A spontaneous mutation leading to the formation of congenital ovarian and testicular tumors was detected in the WKY/Ztm rat strain. The histological evaluation revealed derivatives from all three germ layers, thereby identifying these tumors as teratomas. Teratocarcinogenesis was accompanied by infertility and the underlying mutation was termed ter. Linkage analysis of 58 (WKY-ter×SPRD-Cu3) F2 rats associated the ter mutation with RNO18 (LOD = 3.25). Sequencing of candidate genes detected a point mutation in exon 4 of the dead-end homolog 1 gene (Dnd1), which introduces a premature stop codon assumed to cause a truncation of the Dnd1 protein. Genotyping of the recessive ter mutation revealed a complete penetrance of teratocarcinogenesis and infertility in homozygous ter rats of both genders. Morphologically non-tumorous testes of homozygous ter males were reduced in both size and weight. This testicular malformation was linked to a lack of spermatogenesis using immunohistochemical and histological staining. Our WKY-Dnd1(ter)/Ztm rat is a novel animal model to investigate gonadal teratocarcinogenesis and the molecular mechanisms involved in germ cell development of both genders.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
DND1Humanteratocarcinoma  ISODnd1 (Rattus norvegicus)compared to WKYRGD 
Dnd1Mouseteratocarcinoma  ISODnd1 (Rattus norvegicus)compared to WKYRGD 
Dnd1Ratteratocarcinoma  IAGP compared to WKYRGD 
Dnd1terRatteratocarcinoma  IAGP compared to WKYRGD 
WKY-Dnd1ter/ZtmRatteratocarcinoma  IAGP compared to WKYRGD 

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Dnd1Ratgerm cell development  IMP  RGD 
Dnd1Ratspermatogenesis  IMP  RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Dnd1Ratabnormal spermatogenesis  IAGP compared to WKY RGD 
Dnd1terRatabnormal spermatogenesis  IAGP compared to WKY RGD 
WKY-Dnd1ter/ZtmRatabnormal spermatogenesis  IAGP compared to WKY RGD 
Dnd1Ratabsent germ cells  IAGP compared to WKYRGD 
Dnd1terRatabsent germ cells  IAGP compared to WKYRGD 
WKY-Dnd1ter/ZtmRatabsent germ cells  IAGP compared to WKYRGD 
Dnd1Ratdecreased ovary weight  IAGP compared to WKYRGD 
Dnd1terRatdecreased ovary weight  IAGP compared to WKYRGD 
WKY-Dnd1ter/ZtmRatdecreased ovary weight  IAGP compared to WKYRGD 
Dnd1Ratdecreased testis weight  IAGP compared to WKY and heterozygous RGD 
Dnd1terRatdecreased testis weight  IAGP compared to WKY and heterozygous RGD 
WKY-Dnd1ter/ZtmRatdecreased testis weight  IAGP compared to WKY and heterozygous RGD 
Dnd1Ratinfertility  IAGP compared to WKYRGD 
Dnd1terRatinfertility  IAGP compared to WKYRGD 
WKY-Dnd1ter/ZtmRatinfertility  IAGP compared to WKYRGD 
Dnd1Ratovary cyst  IAGP compared to WKYRGD 
Dnd1terRatovary cyst  IAGP compared to WKYRGD 
WKY-Dnd1ter/ZtmRatovary cyst  IAGP compared to WKYRGD 
Dnd1Rattestis degeneration  IAGP compared to WKYRGD 
Dnd1terRattestis degeneration  IAGP compared to WKYRGD 
WKY-Dnd1ter/ZtmRattestis degeneration  IAGP compared to WKYRGD 
Objects Annotated

Genes (Rattus norvegicus)
Dnd1  (DND microRNA-mediated repression inhibitor 1)
Dnd1ter  (DND microRNA-mediated repression inhibitor 1, ter mutant)

Genes (Mus musculus)
Dnd1  (DND microRNA-mediated repression inhibitor 1)

Genes (Homo sapiens)
DND1  (DND microRNA-mediated repression inhibitor 1)

WKY-Dnd1ter/Ztm  (NA)

Additional Information