About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Eps15l1tm1.1Noff
targeted mutation 1.1, Nina Offenhauser
MGI:6505484
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Eps15l1tm1.1Noff/Eps15l1tm1.1Noff B6(Cg)-Eps15l1tm1.1Noff MGI:6509028
cn2
Eps15tm1c(KOMP)Wtsi/Eps15tm1c(KOMP)Wtsi
Eps15l1tm1.1Noff/Eps15l1tm1.1Noff
Tg(Tek-cre)1Ywa/0
involves: C57BL/6 * C57BL/6N * SJL MGI:6509036
cx3
Eps15tm1Noff/Eps15tm1Noff
Eps15l1tm1.1Noff/Eps15l1tm1.1Noff
involves: 129 * C57BL/6 MGI:6509032


Genotype
MGI:6509028
hm1
Allelic
Composition
Eps15l1tm1.1Noff/Eps15l1tm1.1Noff
Genetic
Background
B6(Cg)-Eps15l1tm1.1Noff
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eps15l1tm1.1Noff mutation (0 available); any Eps15l1 mutation (80 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice that escape neonatal death succumb at 6-8 weeks of age
• although born in normal Mendelian ratios, only 10% of mice (instead of expected 25%) survive to weaning, with newborns dying within the first 2 days of birth

behavior/neurological
• at 4 weeks of age, mice exhibit neurological deficits as revealed by SHIRPA testing
• 90% of newborn pups exhibit lack of feeding
• newborn pups show a significant reduction of reactivity in the nociceptive tail flick test
• however, no difference is observed in the tail suspension test

respiratory system
• most pups exhibit difficulties in respiratory activity on the second day after birth

nervous system
• ultrastructural analysis of steady-state synapses from hippocampal neurons revealed a ~50% reduction of synaptic vesicles relative to wild-type controls
• the number of docked/tethered synaptic vesicles per length of active zone is significantly decreased in hippocampal neurons

growth/size/body
• at 4 weeks of age
• at 4 weeks of age
• mice that escape neonatal death show decreased growth rate

cellular
• although the number of synaptic vesicles with a diameter >80 nm is normal under steady-state conditions, analysis of HRP uptake upon depolarization with 50 mM KCl revealed a significant increase in the number of large HRP-positive vesicles (>80 nm) in hippocampal neurons, suggesting that bulk endocytosis is more active in these cells




Genotype
MGI:6509036
cn2
Allelic
Composition
Eps15tm1c(KOMP)Wtsi/Eps15tm1c(KOMP)Wtsi
Eps15l1tm1.1Noff/Eps15l1tm1.1Noff
Tg(Tek-cre)1Ywa/0
Genetic
Background
involves: C57BL/6 * C57BL/6N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eps15l1tm1.1Noff mutation (0 available); any Eps15l1 mutation (80 available)
Eps15tm1c(KOMP)Wtsi mutation (0 available); any Eps15 mutation (66 available)
Tg(Tek-cre)1Ywa mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• newborn mice show a significant reduction of MCV in peripheral blood
• newborn mice show a significant increase in RBC distribution width
• May-Grunwald-Giemsa staining of blood smears from newborn mice indicates presence of anisotropic RBCs
• May-Grunwald-Giemsa staining revealed a significant increase in reticulocyte number

cardiovascular system
• mice exhibit only a mild vascular defect




Genotype
MGI:6509032
cx3
Allelic
Composition
Eps15tm1Noff/Eps15tm1Noff
Eps15l1tm1.1Noff/Eps15l1tm1.1Noff
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eps15l1tm1.1Noff mutation (0 available); any Eps15l1 mutation (80 available)
Eps15tm1Noff mutation (0 available); any Eps15 mutation (66 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• double homozygous embryos die shortly after E9.5, with no live embryos detected at E11.5-E12.5

embryo
• PECAM staining revealed reduced vascularization of the yolk sac
• at E9.5, some embryos display severe developmental delay
• embryos exhibit severe morphological defects as early as E9.5
• at E9.5, all embryos exhibit absence of limb buds
• at E9.5, all embryos exhibit fused somites

cardiovascular system
• PECAM staining of the vascular system revealed reduced vascularization of the embryo proper and the yolk sac; detailed confocal analysis confirmed compromised vascularization of the head, somites and yolk sac
• PECAM staining revealed reduced vascularization of the yolk sac
• at E9.5, all embryos exhibit delayed turning of the heart

integument
• E9.5 embryos appear paler than controls

nervous system
• at E9.5, all embryos exhibit a reduced midbrain-hindbrain boundary

limbs/digits/tail
• at E9.5, all embryos exhibit absence of limb buds

growth/size/body
• at E9.5, some embryos display severe developmental delay





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
06/12/2024
MGI 6.13
The Jackson Laboratory