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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Elp2em3Bjw
endonuclease-mediated mutation 3, Brandon J Wainwright
MGI:6715581
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Elp2em3Bjw/Elp2em3Bjw involves: C57BL/6 MGI:6754169
ht2
Elp2em1Bjw/Elp2em3Bjw involves: C57BL/6 MGI:6754168
ht3
Elp2em2Bjw/Elp2em3Bjw involves: C57BL/6 MGI:6754172
ht4
Elp2em2Bjw/Elp2em3Bjw involves: C57BL/6 * DBA/2J MGI:6754183


Genotype
MGI:6754169
hm1
Allelic
Composition
Elp2em3Bjw/Elp2em3Bjw
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elp2em3Bjw mutation (0 available); any Elp2 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than the expected numbers are seen at 9-10 dpc and no mutants are obtained at 14-15 dpc

growth/size/body
• embryos are smaller at E10.5

embryo
• embryos are smaller at E10.5




Genotype
MGI:6754168
ht2
Allelic
Composition
Elp2em1Bjw/Elp2em3Bjw
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elp2em1Bjw mutation (0 available); any Elp2 mutation (42 available)
Elp2em3Bjw mutation (0 available); any Elp2 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than the expected numbers are seen at 9-10 dpc and no mutants are seen at 14-15 dpc

growth/size/body
• E9.5 embryos are smaller

embryo
• E9.5 embryos are smaller




Genotype
MGI:6754172
ht3
Allelic
Composition
Elp2em2Bjw/Elp2em3Bjw
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elp2em2Bjw mutation (0 available); any Elp2 mutation (42 available)
Elp2em3Bjw mutation (0 available); any Elp2 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than the expected numbers start to be seen at 16-17 dpc and 18.5 dpc, with no pups seen at weaning

growth/size/body
• fetuses are smaller at E14.5, E16.5, and E18.5

cardiovascular system
• hemorrhaging is seen at 16.5 dpc and 18.5 dpc




Genotype
MGI:6754183
ht4
Allelic
Composition
Elp2em2Bjw/Elp2em3Bjw
Genetic
Background
involves: C57BL/6 * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elp2em2Bjw mutation (0 available); any Elp2 mutation (42 available)
Elp2em3Bjw mutation (0 available); any Elp2 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• lifespan is to P60

growth/size/body
• brain to body weight ratio is decreased, indicating microcephaly

behavior/neurological
• mice show an increase in self-grooming time and number of self-grooming bouts
• mice exhibit motor defects
• mice exhibit reduced number and duration of ultrasonic calls

nervous system
• Purkinje neuron degeneration in the cerebella
• cerebellar atrophy

muscle
• decrease in limb tone

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autism spectrum disorder DOID:0060041 J:306113
intellectual disability DOID:1059 J:306113





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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
12/10/2024
MGI 6.24
The Jackson Laboratory