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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Nup54em1(IMPC)Bay
endonuclease-mediated mutation 1, Baylor College of Medicine
MGI:7425881
Summary 3 genotypes


Genotype
MGI:7720058
hm1
Allelic
Composition		 Nup54em1(IMPC)Bay/Nup54em1(IMPC)Bay
Genetic
Background		 C57BL/6NJ-Nup54em1(IMPC)Bay/Mmnc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nup54em1(IMPC)Bay mutation (1 available); any Nup54 mutation (31 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Nup54em1(IMPC)Bay/Nup54em1(IMPC)Bay mice exhibit embryonic lethality, with embryos recovered at E7.5 but not at E9.5. Embryos show severe developmental delay as small egg cylinders, poorly organized extraembryonic tissues, and no gastrulation.

mortality/aging
embryonic lethality between implantation and placentation, complete penetrance ( J:279207 )
• homozygous embryos are present in expected Mendelian ratios at E7.5; no homozygous embryos are recovered at E9.5

embryo
failure to gastrulate ( J:279207 )
• embryos fail to initiate gastrulation; no Brachyury (T)-positive cells are present at E7.5
embryonic growth retardation ( J:279207 )
• embryos show a severe developmental delay at E7.5
decreased egg cylinder size ( J:279207 )
• a small egg cylinder is observed at E7.5
failure of primitive streak formation ( J:279207 )
• no Brachyury (T)-positive cells are present at E7.5
disorganized extraembryonic tissue ( J:279207 )
• extraembryonic tissues are poorly organized at E7.5

growth/size/body
embryonic growth retardation ( J:279207 )
• embryos show a severe developmental delay at E7.5




Genotype
MGI:7551181
hm2
Allelic
Composition		 Nup54em1(IMPC)Bay/Nup54em1(IMPC)Bay
Genetic
Background		 C57BL/6N-Nup54em1(IMPC)Bay/BayMmucd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nup54em1(IMPC)Bay mutation (1 available); any Nup54 mutation (31 available)
Data Sources
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:7629066
ht3
Allelic
Composition		 Nup54em1(IMPC)Bay/Nup54+
Genetic
Background		 C57BL/6N-Nup54em1(IMPC)Bay/BayMmucd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nup54em1(IMPC)Bay mutation (1 available); any Nup54 mutation (31 available)
Data Sources
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological




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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory