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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nbntm1Nus
targeted mutation 1, Andre Nussenzweig
MGI:2156049
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nbntm1Nus/Nbntm1Nus involves: 129 * C57BL/6 MGI:2675318
ht2
Nbntm1Nus/Nbn+ involves: 129 * C57BL/6 MGI:3847428
cn3
Nbntm1Nus/Nbntm2Nus
Tg(Spo11-cre)D5Mpel/0
involves: BALB/c * C57BL/6 MGI:5297583
cn4
Nbntm1Nus/Nbntm2Nus
Tg(CD19-cre/ERT2)1Cgn/0
Not Specified MGI:3573788


Genotype
MGI:2675318
hm1
Allelic
Composition
Nbntm1Nus/Nbntm1Nus
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbntm1Nus mutation (0 available); any Nbn mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous mutant embryos die prior to E7.5
• at E7.5, 5 of 16 mutant embryos are found to be in an advanced stage of resorption

embryo
• in vitro, homozygous mutant blastocysts display reduced ICM growth after 2 days in culture
• after 4 days in culture, 3 of 12 mutant outgrowths are significantly smaller than those of wild-type controls
• at E6.5, homozygous mutant embryos are noticeably smaller than wild-type embryos
• at E6.5, 3 of 10 homozygous mutant embryos lack an embryonic ectoderm
• at E6.5, 3 of 10 homozygous mutant embryos display disorganized and degenerating cells
• 9 of 12 homozygous mutant embryos lack any detectable ICM after 4 days in culture
• at E6.5, 3 of 10 homozygous mutant embryos lack an extraembryonic ectoderm
• at E6.5, 3 of 10 homozygous mutant embryos lack a preamniotic cavity

growth/size/body
• at E6.5, homozygous mutant embryos are noticeably smaller than wild-type embryos

cellular
• in vitro, homozygous mutant blastocysts display reduced ICM growth after 2 days in culture
• after 4 days in culture, 3 of 12 mutant outgrowths are significantly smaller than those of wild-type controls




Genotype
MGI:3847428
ht2
Allelic
Composition
Nbntm1Nus/Nbn+
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbntm1Nus mutation (0 available); any Nbn mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
N
• contrary to expectation, heterozygotes do not develop any tumors spontaneously within the first 14 months of life
• also, no tumors are observed 7 months after treatment with 4 Gy of gamma-irradiation




Genotype
MGI:5297583
cn3
Allelic
Composition
Nbntm1Nus/Nbntm2Nus
Tg(Spo11-cre)D5Mpel/0
Genetic
Background
involves: BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbntm1Nus mutation (0 available); any Nbn mutation (42 available)
Nbntm2Nus mutation (0 available); any Nbn mutation (42 available)
Tg(Spo11-cre)D5Mpel mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• at 5 weeks, about 50% of females show a reduced oocyte number and ovary size

reproductive system
N
• in male mutants, no spermatogenic delay or fertility problems are observed
• at 5 weeks, about 50% of females show a reduced oocyte number and ovary size
• at 5 weeks, about 50% of females show a reduced ovary size and oocyte number

endocrine/exocrine glands
• at 5 weeks, about 50% of females show a reduced ovary size and oocyte number




Genotype
MGI:3573788
cn4
Allelic
Composition
Nbntm1Nus/Nbntm2Nus
Tg(CD19-cre/ERT2)1Cgn/0
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbntm1Nus mutation (0 available); any Nbn mutation (42 available)
Nbntm2Nus mutation (0 available); any Nbn mutation (42 available)
Tg(CD19-cre/ERT2)1Cgn mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• after 72 hours in culture only 39% of mutant B cells had completed 3 or more cell divisions, cells accumulated in the G2/M phase of the cell cycle, and relatively increased cell death is seen

immune system
• recombined B lymphocytes show increased spontaneous DNA damage, chromosomal aberrations including tetraploidy, and Ig class-switch recombination is diminished
• after 72 hours in culture only 39% of mutant B cells had completed 3 or more cell divisions, cells accumulated in the G2/M phase of the cell cycle, and relatively increased cell death is seen
• IgG, IgG1, IgG2b and IgG3 levels are reduced
• IgM levels are normal

hematopoietic system
• recombined B lymphocytes show increased spontaneous DNA damage, chromosomal aberrations including tetraploidy, and Ig class-switch recombination is diminished
• after 72 hours in culture only 39% of mutant B cells had completed 3 or more cell divisions, cells accumulated in the G2/M phase of the cell cycle, and relatively increased cell death is seen
• IgG, IgG1, IgG2b and IgG3 levels are reduced
• IgM levels are normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Nijmegen breakage syndrome DOID:7400 OMIM:251260
J:96102





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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory