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Phenotypes Associated with This Genotype
Genotype
MGI:2682001
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


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)
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last database update
10/15/2019
MGI 6.14
The Jackson Laboratory