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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
En1tm1Gld
targeted mutation 1, Martyn Goulding
MGI:2137030
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
En1tm1Gld/En1tm1Gld involves: 129S/SvEv MGI:3839919
hm2
En1tm1Gld/En1tm1Gld involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * Swiss Webster MGI:3839949
hm3
En1tm1Gld/En1tm1Gld involves: 129S/SvEv * C57BL/6 MGI:3839923
cx4
En1tm1Gld/En1+
Ntn1Gt(ST629)Byg/Ntn1Gt(ST629)Byg
involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 MGI:3839924
cx5
En1tm1Gld/En1tm1Gld
Tg(Wnt1-En1)1Amc/0
involves: 129S/SvEv MGI:3839920
cx6
En1tm1Gld/En1+
En2tm1Alj/En2tm1Alj
involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * Swiss Webster MGI:3839946
cx7
En1tm1Gld/En1tm1Gld
En2tm1Alj/En2tm1Alj
involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * Swiss Webster MGI:3839947
cx8
En1tm1Gld/En1tm1Gld
En2tm1Alj/En2+
involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * Swiss Webster MGI:3839948


Genotype
MGI:3839919
hm1
Allelic
Composition
En1tm1Gld/En1tm1Gld
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Gld mutation (0 available); any En1 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• spinal cords show a 3- to 4-fold slowing of the locomotor step cycle and lengthening of the burst duration




Genotype
MGI:3839949
hm2
Allelic
Composition
En1tm1Gld/En1tm1Gld
Genetic
Background
involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Gld mutation (0 available); any En1 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• decrease in the number of mesencephalic dopaminergic neurons




Genotype
MGI:3839923
hm3
Allelic
Composition
En1tm1Gld/En1tm1Gld
Genetic
Background
involves: 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Gld mutation (0 available); any En1 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at E10.5 axons from En1 expressing neurons form bundles of 3 or more axons within the ventrolateral funiculus unlike in controls where axons do not fasciculate with each other
• at E12 axons from En1 expressing neurons form bundles of 10 or more axons within the ventrolateral funiculus unlike in controls
• at E10.5 axons from En1 expressing neurons often turn dorsally after entering the ventrolateral funiculus rather than turning rostrally
• at E12 axons from En1 expressing neurons display disorganized trajectories
• at E12.5 axons from En1 expressing neurons are absent from the ventromedial regions of the ventrolateral funiculus with few if any axons adjacent to the medial most motor neurons
• truncation of the midbrain is seen at E12
• fewer axons from En1 expressing neurons are present in the medial half of the medial motor column and more axons are present in the lateral half

limbs/digits/tail
• limb defects are seen at E12

cellular
• at E10.5 axons from En1 expressing neurons form bundles of 3 or more axons within the ventrolateral funiculus unlike in controls where axons do not fasciculate with each other
• at E12 axons from En1 expressing neurons form bundles of 10 or more axons within the ventrolateral funiculus unlike in controls
• at E10.5 axons from En1 expressing neurons often turn dorsally after entering the ventrolateral funiculus rather than turning rostrally
• at E12 axons from En1 expressing neurons display disorganized trajectories
• at E12.5 axons from En1 expressing neurons are absent from the ventromedial regions of the ventrolateral funiculus with few if any axons adjacent to the medial most motor neurons




Genotype
MGI:3839924
cx4
Allelic
Composition
En1tm1Gld/En1+
Ntn1Gt(ST629)Byg/Ntn1Gt(ST629)Byg
Genetic
Background
involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Gld mutation (0 available); any En1 mutation (32 available)
Ntn1Gt(ST629)Byg mutation (1 available); any Ntn1 mutation (106 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at E11 the majority of En1 expressing neuron ventrally projecting axons are either truncated or turn rostrally before reaching the ventrolateral funiculus
• at E11 the majority of En1 expressing neuron ventrally projecting axons are either truncated or turn rostrally before reaching the ventrolateral funiculus

cellular
• at E11 the majority of En1 expressing neuron ventrally projecting axons are either truncated or turn rostrally before reaching the ventrolateral funiculus
• at E11 the majority of En1 expressing neuron ventrally projecting axons are either truncated or turn rostrally before reaching the ventrolateral funiculus




Genotype
MGI:3839920
cx5
Allelic
Composition
En1tm1Gld/En1tm1Gld
Tg(Wnt1-En1)1Amc/0
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Gld mutation (0 available); any En1 mutation (32 available)
Tg(Wnt1-En1)1Amc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• impaired ability to walk and maintain balance at higher rotarod speeds
• while performance improves with practice mice never match the performance of wild-type controls




Genotype
MGI:3839946
cx6
Allelic
Composition
En1tm1Gld/En1+
En2tm1Alj/En2tm1Alj
Genetic
Background
involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Gld mutation (0 available); any En1 mutation (32 available)
En2tm1Alj mutation (1 available); any En2 mutation (104 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• loss of dopaminergic neurons specifically in the substantia nigra pars compacta starting after P0 and continuing until 3 months after birth
• loss is due to apoptosis, not conversion to another cell fate
• decreased in the release of dopamine from striatal slices following stimulation of the caudate putamen
• however, no defect in release is seen in the nucleus accumbens

behavior/neurological
• mice freeze more frequently while swimming compared to En2 null littermate controls
• between 5 and 11 weeks of age, mice consume less food per day compared to En2 null littermate controls
• decreased grip strength in an inverted grid assay compared to En2 null littermate controls at 8 months of age but not at 18 months of age
• however, at 18 months of age mice took fewer steps on the grid compared to En2 null littermate controls
• decrease in forward locomotion in an open field at 18 months of age but not at 8 months of age compared to En2 null littermate controls

growth/size/body
• beginning around 5 to 6 weeks of age

homeostasis/metabolism
• in the striatum

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Parkinson's disease DOID:14330 OMIM:PS168600
J:115270




Genotype
MGI:3839947
cx7
Allelic
Composition
En1tm1Gld/En1tm1Gld
En2tm1Alj/En2tm1Alj
Genetic
Background
involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Gld mutation (0 available); any En1 mutation (32 available)
En2tm1Alj mutation (1 available); any En2 mutation (104 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• decrease in the number of mesencephalic dopaminergic neurons




Genotype
MGI:3839948
cx8
Allelic
Composition
En1tm1Gld/En1tm1Gld
En2tm1Alj/En2+
Genetic
Background
involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Gld mutation (0 available); any En1 mutation (32 available)
En2tm1Alj mutation (1 available); any En2 mutation (104 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• decrease in the number of mesencephalic dopaminergic neurons





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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory