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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





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory