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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
En1tm5(en)Alj
targeted mutation 5, Alexandra L Joyner
MGI:1930664
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
En1tm5(en)Alj/En1tm5(en)Alj involves: 129S1/Sv * 129X1/SvJ MGI:2175852
hm2
En1tm5(en)Alj/En1tm5(en)Alj involves: 129S1/Sv * 129X1/SvJ * Swiss Webster MGI:3789326
cx3
En1tm5(en)Alj/En1tm5(en)Alj
En2tm2Alj/En2tm2Alj
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * Swiss Webster MGI:3789310
cx4
En1tm5(en)Alj/En1tm5(en)Alj
En2tm2Alj/En2+
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * Swiss Webster MGI:3789311
cx5
En1tm5(en)Alj/En1+
En2tm2Alj/En2tm2Alj
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * Swiss Webster MGI:3789315


Genotype
MGI:2175852
hm1
Allelic
Composition
En1tm5(en)Alj/En1tm5(en)Alj
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm5(en)Alj mutation (0 available); any En1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 90% survive to weaning

nervous system
• substantial but still incomplete rescue of brain defects
• although the cerebellum is grossly normal, cerebellar folding is somewhat delayed
• one mouse studied lacks the first anterior fold and has an aberrant 8th fold
• half of animals studied have the first two folds fused and a posterior shift of the eighth fold
• grossly normal but slight truncation is seen in some animals

limbs/digits/tail
• ventrally restricted eccrine glands are largely absent
• flexor digitorum and profundus tendons are present but appear to end blindly in the distal soft tissue of most digits (J:34307)
• middle digits less severely affected (J:50311)
• display the double dorsal morphology of En1tm1Alj (J:50311)
• posterior paws less affected than anterior paws (J:50311)
• hyperpigmentation developing at 3-4 weeks of age
• postaxial
• ectopic ventral digits on both fore and hind paws
• variable occurrence of fusion of digits is observed at 14 months
• at 3 months of age, nail/pad hybrid structures associated with metatarsal pads are clearly visible
• ventral skeletal elements such as falciform and sesamoid cartilages (bones) are absent or incompletely formed

skeleton
N
• defects in skeletal structures of the body wall are rescued (sternum, ribs)
• ventral skeletal elements such as falciform and sesamoid cartilages (bones) are absent or incompletely formed
• variable occurrence of fusion of digits is observed at 14 months

pigmentation
• hyperpigmentation developing at 3-4 weeks of age

endocrine/exocrine glands
• ventrally restricted eccrine glands are largely absent

integument
• ventrally restricted eccrine glands are largely absent
• ventral nail-like structures developing at 3-4 weeks of age
• at 14 months, ectopic ventral hairs on distal limb
• hyperpigmentation developing at 3-4 weeks of age




Genotype
MGI:3789326
hm2
Allelic
Composition
En1tm5(en)Alj/En1tm5(en)Alj
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm5(en)Alj mutation (0 available); any En1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice are viable

nervous system
N
• cerebellum and colliculi have normal morphology at E18.5




Genotype
MGI:3789310
cx3
Allelic
Composition
En1tm5(en)Alj/En1tm5(en)Alj
En2tm2Alj/En2tm2Alj
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm5(en)Alj mutation (0 available); any En1 mutation (34 available)
En2tm2Alj mutation (0 available); any En2 mutation (104 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no mutants are detected after birth

nervous system
• structure does not form
• in some mutants, structure does not form
• in some mutants structure is half normal size
• at E18.5, no cerebellum is observed




Genotype
MGI:3789311
cx4
Allelic
Composition
En1tm5(en)Alj/En1tm5(en)Alj
En2tm2Alj/En2+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm5(en)Alj mutation (0 available); any En1 mutation (34 available)
En2tm2Alj mutation (0 available); any En2 mutation (104 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about half of the expected number of mutants survive to adulthood

nervous system
• reduced in size in surviving adults
• vermis displays fused folia, and folia I, II, and III are smaller than normal in adults
• subregion VIII (posterior vermis) is not present in adults
• in adults, reduced in overall size by one-third relative to controls




Genotype
MGI:3789315
cx5
Allelic
Composition
En1tm5(en)Alj/En1+
En2tm2Alj/En2tm2Alj
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm5(en)Alj mutation (0 available); any En1 mutation (34 available)
En2tm2Alj mutation (0 available); any En2 mutation (104 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• reduced in size at E18.5
• in posterior hemisphere crusil and paramedian folia are fused; in one embryo, a partial fissure separating crusil and paramedian folia is observed
• foliation defects are milder than in En1tm2Alj /+, En2tm2Alj homozygotes; most mutants have foliation pattern similar to hemispheres of En2tm2Alj homozygotes
• subregion VIII (posterior vermis) is not present at E18.5
• at E18.5, reduced in overall size by one-third relative to controls





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory