About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nbntm1Zqw
targeted mutation 1, Zhao-Qi Wang
MGI:2682000
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nbntm1Zqw/Nbntm1Zqw involves: 129S2/SvPas * C57BL/6 MGI:2682001
ht2
Nbntm1Zqw/Nbn+ involves: 129S2/SvPas * C57BL/6 MGI:2682002
cn3
Nbntm1Md/Nbntm1Zqw
Tg(Mx1-cre)1Cgn/0
involves: 129/Sv * 129P2/OlaHsd * C57BL/6 * CBA MGI:3510438


Genotype
MGI:2682001
hm1
Allelic
Composition
Nbntm1Zqw/Nbntm1Zqw
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbntm1Zqw mutation (0 available); any Nbn mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygtes die in utero between day E3.5 and E7.5 due to arrested growth and expansion of the ICM of mutant blastocysts

cellular
• TUNEL analysis revealed enhanced apoptosis in the ICM
• TUNEL analysis indicates enhanced apoptosis in the ICM and in the giant trophoblast cells of mutant blastocyst outgrowths
• homozygotes display arrested growth and expansion of the ICM

embryo
• TUNEL analysis revealed enhanced apoptosis in the ICM
• homozygotes display arrested growth and expansion of the ICM
• blastocysts isolated from intercrosses of heterozygous mutant mice display degeneration of the ICM after 4 days in culture
• homozygotes exhibit trophoectoderm growth retardation

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Nijmegen breakage syndrome DOID:7400 OMIM:251260
J:86563




Genotype
MGI:2682002
ht2
Allelic
Composition
Nbntm1Zqw/Nbn+
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbntm1Zqw mutation (0 available); any Nbn mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• ~3.5% of heterozygotes develop mammary gland adenocarcinomas vs none of wild-type mice
• 8.6% of heterozygotes develop low-grade prostate intraepithelial neoplasia vs none of wild-type mice
• heterozygotes exhibit an increased frequency of Leydig cell tumors after gamma-irradiation
• heterozygotes develop a high frequency of thyroid gland atypical hyperplasia and intraepithelial adenomas only after gamma-irradiation

integument
• ~3.5% of heterozygotes develop mammary gland adenocarcinomas vs none of wild-type mice

respiratory system
• heterozygotes exhibit an increased frequency of lung adenocarcinomas after gamma-irradiation

reproductive system
• 8.6% of heterozygotes develop low-grade prostate intraepithelial neoplasia vs none of wild-type mice
• 12% of heterozygotes develop gonad tumors, including sex-cord stromal cell tumors (7%) and germ cell tumors (5%)
• heterozygotes exhibit an increased frequency of germ cell tumors and stromal cell tumors in the testis (Leydig cell tumors) and ovary after gamma-irradiation
• heterozygotes exhibit an increased frequency of Leydig cell tumors after gamma-irradiation

liver/biliary system
• 8.6% of heterozygotes develop liver adenocarcinomas vs 3% of wild-type mice
• 10% of heterozygotes develop liver adenomas vs 6.5% of wild-type mice

mortality/aging
• heterozygotes irradiated with gamma-rays at a dosage of 8 Gy exhibit a significantly shorter life span than wild-type controls

neoplasm
• over a period of 100 weeks, heterozygotes exhibit increased susceptibility to spontaneous tumor development (78% vs 53% in wild-type), with a significantly higher number of tumors per mouse than wild-type mice (1.09 vs 0.59, respectively)
• heterozygotes develop a high frequency of epithelial tumors (52%), gonad tumors (12%), and lymphomas (10%), whereas wild-type mice develop primarily age-related tumors such as lung tumors, angiomas, and sarcomas
• ~3.5% of heterozygotes develop mammary gland adenocarcinomas vs none of wild-type mice
• 8.6% of heterozygotes develop low-grade prostate intraepithelial neoplasia vs none of wild-type mice
• heterozygotes develop a high frequency of thyroid gland atypical hyperplasia and intraepithelial adenomas only after gamma-irradiation
• 8.6% of heterozygotes develop liver adenocarcinomas vs 3% of wild-type mice
• 10% of heterozygotes develop liver adenomas vs 6.5% of wild-type mice
• 10% of heterozygotes develop lymphomas that can infiltrate other organs such as the liver or small intestine and express exclusively either the B-cell marker CD45R/B220, or the T-cell marker CD3
• heterozygotes exhibit an increased frequency of lung adenocarcinomas after gamma-irradiation
• tumor incidence is dramatically increased in gamma-irradiated heterozygotes (85% vs 41% in wild-type control mice), with more lymphomas and epithelial tumors detected in radiation-treated heterozygotes relative to wild-type controls or to unirradiated groups
• more lymphomas and epithelial tumors are observed in radiation-treated heterozygotes relative to wild-type controls or to unirradiated groups
• gamma-irradiation induces a high frequency of thyroid gland atypical hyperplasia and intraepithelial adenomas, and enhances the formation of lung cancers, germ cell tumors and stromal cell tumors in the testis (Leydig cell tumors) and ovary
• 12% of heterozygotes develop gonad tumors, including sex-cord stromal cell tumors (7%) and germ cell tumors (5%)
• heterozygotes exhibit an increased frequency of germ cell tumors and stromal cell tumors in the testis (Leydig cell tumors) and ovary after gamma-irradiation
• heterozygotes exhibit an increased frequency of Leydig cell tumors after gamma-irradiation
• heterozygotes exhibit an earlier tumor onset

cellular
• MEFs and tumor cellss derived from heterozygous mutant mice show an increased rate of chromosome aberrations, including chromosome end-to-end fusions and fragmentations, as well as loss of telomeres at the fusion sites

homeostasis/metabolism
• heterozygotes irradiated with gamma-rays at a dosage of 8 Gy exhibit a significantly shorter life span than wild-type controls

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Nijmegen breakage syndrome DOID:7400 OMIM:251260
J:86563




Genotype
MGI:3510438
cn3
Allelic
Composition
Nbntm1Md/Nbntm1Zqw
Tg(Mx1-cre)1Cgn/0
Genetic
Background
involves: 129/Sv * 129P2/OlaHsd * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbntm1Md mutation (0 available); any Nbn mutation (40 available)
Nbntm1Zqw mutation (0 available); any Nbn mutation (40 available)
Tg(Mx1-cre)1Cgn mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• recombined lymphocytes show increased chromosomal instability and cells in which cre mediated excision occurred are preferentially lost from the bone marrow, thymus, and spleen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Nijmegen breakage syndrome DOID:7400 OMIM:251260
J:93598





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
10/08/2019
MGI 6.14
The Jackson Laboratory