Dnd1<Ter> Spontaneous Allele Detail MGI Mouse (MGI:2158668)

Dnd1^Ter
Spontaneous Allele Detail

Nomenclature

Symbol:	Dnd1^Ter
Name:	dead end homolog 1 (zebrafish); teratoma
MGI ID:	MGI:2158668
Synonyms:	Ter
Gene:	Dnd1 Location: Chr18:36923325-36925868 bp, - strand Genetic Position: Chr18, 20.0 cM

Mutation
origin

Strain of Origin:

129S1/Sv-Kit^W Oca2^p Tyr^c-ch

Mutation
description

Allele Type:	Spontaneous
Mutation:	Single point mutation
	A single C to T base change created a stop codon at amino acid residue 178 or residue 190 depending on the isoform. (J:98580)
Inheritance:	Semidominant

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any Dnd1 Mutation:	1 strain or line available

Expression

In Mice Carrying this Mutation:

8 assay results

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	hm2	ht3	ht4	ot5
endocrine/exocrine glands		√			√
abnormal ovary morphology		√
small ovary		√			√
decreased ovary weight		√
small testis		√			√
decreased testis weight		√
		hm1	hm2	ht3	ht4	ot5
reproductive system		√			√
abnormal ovary morphology		√
small ovary		√			√
decreased ovary weight		√
small testis		√			√
decreased testis weight		√
male infertility		√
decreased germ cell number					√
decreased oocyte cell number		√
decreased male germ cell number		√
		hm1	hm2	ht3	ht4	ot5
tumorigenesis		√	√	√	√	√
testis tumor					√
testicular teratoma		√	√	√	√	√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Dnd1^Ter/Dnd1^Ter	129S1/Sv-Kit^W Oca2^p Tyr^c-ch
reproductive system abnormal ovary morphology (J:7954) some germ cell deficient ovaries weigh more than wild-type; only seen when ovaries have several corpora lutea small ovary (J:7954) decreased ovary weight (J:7954) adult females have small ovaries (2 mg) compared to wild-type (5.4 mg) small testis (J:7954) decreased testis weight (J:7954) wet weights of germ cell-deficient testes are 20-25% that of wild-type testes decreased oocyte cell number (J:7954) in females, some ovaries show germ cell depletion with only a few cells present; female germ cells survive and matured into normal oocytes abnormal ovaries have ~10% normal number of oocytes decreased male germ cell number (J:7954) at E15, a few germ cells are present in seminiferous tubules of males, and decline thereafter; no germ cells are present in early postnatal male mice male infertility (J:7954) males with abnormal testes are sterile with or without presence of testicular tumor; germ cell deficient males in breeding for ~3 months produced no pregnancies or litters tumorigenesis testicular teratoma (J:7954) 94% (167/178) of homozygous males have testicular teratomas; 75% of affected males have bilateral teratomas, 19% unilateral teratomas, and 6% are tumor-free whereas wild-type mice have only a 1.4% incidence of spontaneous teratomas; left testis is affected in twice as many males as right testis endocrine/exocrine glands abnormal ovary morphology (J:7954) some germ cell deficient ovaries weigh more than wild-type; only seen when ovaries have several corpora lutea small ovary (J:7954) decreased ovary weight (J:7954) adult females have small ovaries (2 mg) compared to wild-type (5.4 mg) small testis (J:7954) decreased testis weight (J:7954) wet weights of germ cell-deficient testes are 20-25% that of wild-type testes
Genotype	Allelic Composition	Genetic Background
hm2	Dnd1^Ter/Dnd1^Ter	involves: 129S1/Sv * C57BL/6
tumorigenesis testicular teratoma (J:7954) Background Sensitivity: incidence is reduced after backcrossing for several generations compared to coisogenic mutants 56% (10/18) N1 male homozygotes show teratomas; 26% of N2 homozygous males and 25% of N3 homozygotes develop teratomas
Genotype	Allelic Composition	Genetic Background
ht3	Dnd1^Ter/Dnd1⁺	129S1/Sv-Kit^W Oca2^p Tyr^c-ch
tumorigenesis testicular teratoma (J:7954) 17% (20/117) of males show testicular teratomas, only 2/117 have bilateral teratomas
Genotype	Allelic Composition	Genetic Background
ht4	Dnd1^Ter/Dnd1⁺	involves: 129S1/Sv * C57BL/6
reproductive system small ovary (J:7954) seen in some mice of N3 backcross to B6 small testis (J:7954) seen in some mice of N3 backcross to B6 decreased germ cell number (J:7954) 23% (29/126) of mice from N1 heterozygotes bred to 129/Sv-Dnd1 heterozygotes are germ cell deficient; 29% (28/101) of mice from N2 heterozygotes bred to 129/Sv-Dnd1 heterozygotes are germ cell deficient N1 intercrossing results in 20/100 offspring have germ cell deficiency tumorigenesis testis tumor (J:7954) Background Sensitivity: incidence is reduced after backcrossing for several generations compared to coisogenic heterozygous mutants testicular teratoma (J:7954) Background Sensitivity: incidence is reduced after backcrossing for several generations compared to coisogenic heterozygous mutants endocrine/exocrine glands small ovary (J:7954) seen in some mice of N3 backcross to B6 small testis (J:7954) seen in some mice of N3 backcross to B6
Genotype	Allelic Composition	Genetic Background
ot5	Dnd1^Ter/?	129S1/Sv-Kit^W Oca2^p Tyr^c-ch
tumorigenesis testicular teratoma (J:29502) ~30% of males develop testicular teratomas, and the earliest spontaneous tumors observed were in testes of E16 fetuses; most teratomas are bilateral teratomas contain many types of mature tissues, such as epithelia (skin, mammary gland, alimentary, salivary gland and respiratory epithelia), muscle tissue, cartilage, bone, and brown and white adipose tissue primordial germ cells are highly susceptible to teratocarcinogenesis between E12-13, but become resistant by E14, as show in grafting experiments (embryonic genital ridges grafted onto adult testes)

References

Original:	J:29502 Stevens LC, "A new inbred subline of mice (129-terSv) with a high incidence of spontaneous congenital testicular teratomas." J Natl Cancer Inst 1973 Jan;50(1):235-42
All:	13 reference(s)

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