Phenotypes Associated with This Genotype

Genotype
MGI:2682001

• Allelic Composition: Nbn^tm1Zqw/Nbn^tm1Zqw
• Genetic Background: involves: 129S2/SvPas * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:86563 )

• homozygtes die in utero between day E3.5 and E7.5 due to arrested growth and expansion of the ICM of mutant blastocysts

cellular

abnormal inner cell mass apoptosis ( J:86563 )

• TUNEL analysis revealed enhanced apoptosis in the ICM

increased apoptosis ( J:86563 )

• TUNEL analysis indicates enhanced apoptosis in the ICM and in the giant trophoblast cells of mutant blastocyst outgrowths

absent inner cell mass proliferation ( J:86563 )

• homozygotes display arrested growth and expansion of the ICM

embryo

abnormal inner cell mass apoptosis ( J:86563 )

• TUNEL analysis revealed enhanced apoptosis in the ICM

absent inner cell mass proliferation ( J:86563 )

• homozygotes display arrested growth and expansion of the ICM

inner cell mass degeneration ( J:86563 )

• blastocysts isolated from intercrosses of heterozygous mutant mice display degeneration of the ICM after 4 days in culture

abnormal trophectoderm morphology ( J:86563 )

• 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