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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
En1tm1Alj
targeted mutation 1, Alexandra L Joyner
MGI:1857163
Summary 17 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
En1tm1Alj/En1tm1Alj B6.129-En1tm1Alj MGI:3718798
hm2
En1tm1Alj/En1tm1Alj either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J) MGI:2175847
hm3
En1tm1Alj/En1tm1Alj involves: 129 * C57BL/6J MGI:2171880
ht4
En1tm1Alj/En1tm3(En2)Alj either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J) MGI:2175850
cn5
En1tm1Alj/En1tm8.1Alj
En2tm1Alj/En2tm7.1Alj
Gt(ROSA)26Sortm1(cre/ERT2)Alj/Gt(ROSA)26Sor+
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster MGI:4421427
cn6
En1tm1Alj/En1tm8.1Alj
En2tm6Alj/En2+
Gt(ROSA)26Sortm1(cre/ERT2)Alj/Gt(ROSA)26Sor+
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster MGI:4421456
cn7
En1tm1Alj/En1tm8.1Alj
En2tm1Alj/En2tm6Alj
Gt(ROSA)26Sortm1(cre/ERT2)Alj/Gt(ROSA)26Sor+
involves: 129S2/SvPas * 129S6/SvEvTac * Swiss Webster MGI:4421433
cx8
En1tm1Alj/En1tm1Alj
Wnt7atm1Amc/Wnt7atm1Amc
Tg(Wnt1-En1)1Amc/0
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J) MGI:3718802
cx9
En1tm1Alj/En1tm1Alj
Tg(Wnt1-En1)1Amc/0
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J) MGI:3718801
cx10
En1tm1Alj/En1tm8.1Alj
En2tm1Alj/En2tm7.1Alj
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster MGI:4421431
cx11
En1tm1Alj/En1+
En2tm1Alj/En2tm1Alj
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ MGI:3718800
cx12
En1tm1Alj/En1tm1Alj
En2tm1Alj/En2+
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ MGI:3718799
cx13
En1tm1Alj/En1tm1Alj
Rfngtm1Tfv/Rfng+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3849436
cx14
En1tm1Alj/En1tm1Alj
Rfngtm1Tfv/Rfngtm1Tfv
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3849435
cx15
En1tm1Alj/En1tm1Alj
Moen3C57BL/6/Moen3C57BL/6
involves: 129S1/Sv * C57BL/6 MGI:3715514
cx16
En1tm1Alj/En1tm1Alj
Moen2C57BL/6/Moen2C57BL/6
involves: 129S1/Sv * C57BL/6 MGI:3715513
cx17
En1tm1Alj/En1tm1Alj
Moen1C57BL/6/Moen1C57BL/6
involves: 129S1/Sv * C57BL/6 MGI:3715512


Genotype
MGI:3718798
hm1
Allelic
Composition
En1tm1Alj/En1tm1Alj
Genetic
Background
B6.129-En1tm1Alj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• born in normal numbers
• reduced vitality and frequently die before weaning

growth/size/body
• smaller than littermates within a few days of birth

nervous system
• fusion of cerebellar lobules IV and V
• Background Sensitivity: otherwise phenotypically normal cerebellum is seen as early as the third backcross generation to C57BL/6 and thereafter
• mild truncation seen in the midbrain in the area of the inferior colliculi

limbs/digits/tail
• fur growth on the ventral surface of the forepaws
• circumferential nails on all digits
• 6th postaxial digit
• ectopic digits

integument
• circumferential nails on all digits




Genotype
MGI:2175847
hm2
Allelic
Composition
En1tm1Alj/En1tm1Alj
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: death usually within 24 hours of birth
• one mouse with a less severe phenotype survived to 7 days

embryo
• thinner than in controls at E10.5

limbs/digits/tail
• in limbs examined, ventral tendons of digit flexor muscles are absent or poorly developed
• ventral skeletal elements such as falciform and sesamoid cartilages are absent or incompletely formed
• thinner than in controls at E10.5
• dorsal transformation of ventral structures and ventral duplication of distal structures is observed in neonatal limbs
• paws display aspects of double dorsal paws
• ventrally restricted eccrine glands are largely absent
• outward splayed digits (J:19212)
• skin wrinkles on digits (J:19212)
• digits flex dorsally rather than ventrally (J:34307)
• occasional ectopic ventral digits (digits 6, 7) are seen emanating from proximal paw pads in 10-15% of neonates
• 6th postaxial digit
• often with only one phalange
• usually involves only one forelimb
• one example of a preaxial supernumary digit on one paw (7 digits)
• mild truncation
• circumferential nails supplant distal, ventral foot pads; proximal metatarsal pads are present but possess few is any eccrine glands

skeleton
• length reduced by 25%
• ossification centers reduced rostrally to caudally by 40-80%
• ossification centers asymmetric and abnormally fused in the midline
• fourth ossification center absent or rudimentary
• 13th rib pair missing or severely truncated in about 43% of animals
• delayed ossification of phalanges

behavior/neurological
• most mice fail to eat
• only one, with a less severe phenotype actually ate
• pups fail to eat

nervous system
• abnormalities in the brain are apparent by E12.5, before primordia for the cerebellum and colliculi form
• Background Sensitivity: reduced in size by E9.5
• Background Sensitivity: abnormalities less obvious at E8.5
• fused to the truncated colliculi
• Background Sensitivity: variable reduction in size
• Background Sensitivity: in extreme examples, the cerebellum can be absent
• missing at E10.5 and E12.5
• missing at E10.5 and E12.5

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

integument
• ventrally restricted eccrine glands are largely absent
• in newborn mice, nails on digits 1-4 are circumferential in contrast to dorsally-positioned nails in wild-type neonates; nail plates are found on ventral and dorsal digit surfaces
• present at base of epithelial structures in ventral and dorsal dermis
• dorsally restricted follicles are seen along ventral as well as dorsal digit surfaces; ectopic ventral hairs on distal limbs
• skin wrinkles on digits




Genotype
MGI:2171880
hm3
Allelic
Composition
En1tm1Alj/En1tm1Alj
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• ectopic expression ventrally of markers for the apical ectodermal ridge

embryo
• ectopic expression ventrally of markers for the apical ectodermal ridge




Genotype
MGI:2175850
ht4
Allelic
Composition
En1tm1Alj/En1tm3(En2)Alj
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
En1tm3(En2)Alj mutation (0 available); any En1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• brain, limbs, and sternum normal




Genotype
MGI:4421427
cn5
Allelic
Composition
En1tm1Alj/En1tm8.1Alj
En2tm1Alj/En2tm7.1Alj
Gt(ROSA)26Sortm1(cre/ERT2)Alj/Gt(ROSA)26Sor+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
En1tm8.1Alj mutation (1 available); any En1 mutation (34 available)
En2tm1Alj mutation (1 available); any En2 mutation (104 available)
En2tm7.1Alj mutation (0 available); any En2 mutation (104 available)
Gt(ROSA)26Sortm1(cre/ERT2)Alj mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• when given tamoxifen at E13.5 or E14. the hemisphere phenotype is more severe than in double mutants that do not express Cre
• when given tamoxifen at E13.5 or E14. the vermis phenotype is more severe than in double mutants that do not express Cre




Genotype
MGI:4421456
cn6
Allelic
Composition
En1tm1Alj/En1tm8.1Alj
En2tm6Alj/En2+
Gt(ROSA)26Sortm1(cre/ERT2)Alj/Gt(ROSA)26Sor+
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
En1tm8.1Alj mutation (1 available); any En1 mutation (34 available)
En2tm6Alj mutation (1 available); any En2 mutation (104 available)
Gt(ROSA)26Sortm1(cre/ERT2)Alj mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• when given tamoxifen at E10.5, at P21 the anterior region (lobules I-V) is reduced and the central region (lobules VI-VII) is preferentially expanded.
• when tamoxifen is given at E10.5, at P21 lobule VIII extends more laterally than normal, as do lobules I-V but only on one side




Genotype
MGI:4421433
cn7
Allelic
Composition
En1tm1Alj/En1tm8.1Alj
En2tm1Alj/En2tm6Alj
Gt(ROSA)26Sortm1(cre/ERT2)Alj/Gt(ROSA)26Sor+
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
En1tm8.1Alj mutation (1 available); any En1 mutation (34 available)
En2tm1Alj mutation (1 available); any En2 mutation (104 available)
En2tm6Alj mutation (1 available); any En2 mutation (104 available)
Gt(ROSA)26Sortm1(cre/ERT2)Alj mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• tamoxifen treatment at E9.5, but not at E10.5, results in death at birth

nervous system
• when tamoxifen treated at E10.5, at P2 proliferation is similar in the anterior and central lobules, unlike in wild-type mice
• a major deletion of the midbrain is seen when tamoxifen is given at E9.5, but not when given at E10.5
• a major deletion of the medial cerebellum is seen when tamoxifen is given at E9.5 but not when given at E10.5
• when given tamoxifen at E10.5, at P14 the distinction between the vermis and the hemispheres is not apparent
• when given tamoxifen at E10.5, at E12.5 the cerebellar primordium is reduced in size
• when tamoxifen treated at E10.5, development of the vermis prepyramidal fissure is delayed and the order of fissure initiation is altered
• when given tamoxifen at E10.5, at P14 cerebellar foliation patterns are disrupted
• when given tamoxifen at E13.5 or E14.5, foliation defects in adults are less severe than when tamoxifen is given at E10.5
• when tamoxifen treated at E10.5, at E18.5 the thickness of the external granule layer was 1.5-2 times greater in the mutants than in wild types
• when tamoxifen treated at E10.5, at P2 the thickness of the external granule layer is similar in the lobules IV/V and VI unlike in wild-type mice
• when tamoxifen treated at E10.5, at P2 thickness is similar to that at E18.5 and thinner than in the controls.
• when given tamoxifen at E13.5 or E14.5, in adults the preculminate fissure is absent (between I-II and III) as lobules I-III are fused
• when given tamoxifen at E10.5, at P3 the depth of the primary fissure is increased relative to the intercrural fissure
• when given tamoxifen at E10.5, at P14 the anterior region (lobules I-V) is reduced and the central region (lobules VI-VII) is preferentially expanded
• when tamoxifen is given at E10.5, at P14, unlike in wild type, the remnants of lobules I-V extend into the hemispheres
• when tamoxifen is given at E10.5, at P14 remnants of the vermis, specific anterior and posterior regions, are maintained more laterally than in wild-type
• when given tamoxifen at E10.5, at P14 in some mutants lobule VIII is diminished more medially than lobule IX rather than the opposite as occurs in wild-type
• when tamoxifen treated at E10.5, at P2 lobules I - V are smaller and lobule VI is much larger than in wild-type
• when tamoxifen is given at E13.5 or E14.5, in adults lobule VIII is shifted posterior and fused with dorsal lobule IX
• when tamoxifen treated at E10.5, at P2 the thickness of the external granule layer is similar in the lobules IV/V and VI unlike in wild-type mice
• when given tamoxifen at E10.5, at P14 lobules VI-VII occupy a greater proportion of the vermis than in wild-type
• when given tamoxifen at E10.5, at P14 lobules VIII-IX occupy a smaller proportion of the vermis than in wild-type
• when given tamoxifen at E13.5 or E14.5, in adults lobules I-III are fused into one lobule
• when tamoxifen treated at E10.5, at P2 overall size of each region, and thus total number of cells, is greatly reduced
• when given tamoxifen, at P3 the cerebellum is smaller compared to controls

cellular
• when tamoxifen treated at E10.5, at P2 proliferation is similar in the anterior and central lobules, unlike in wild-type mice




Genotype
MGI:3718802
cx8
Allelic
Composition
En1tm1Alj/En1tm1Alj
Wnt7atm1Amc/Wnt7atm1Amc
Tg(Wnt1-En1)1Amc/0
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
Tg(Wnt1-En1)1Amc mutation (0 available)
Wnt7atm1Amc mutation (1 available); any Wnt7a mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• viability ranged from 3 weeks to beyond 4 months
• born in lower numbers than expected

limbs/digits/tail
• ventral surface of autopods is pigmented
• dorsal sesamoid processes in the 3rd digit
• no polydactyly
• some mice lack digit 5
• ectopic foot pads on digits 2, 3, and 4
• striations on the tips of digits 2, 3, and 5
• hardened foot pads
• dorsal surface of forelimbs with ventral surface characteristics




Genotype
MGI:3718801
cx9
Allelic
Composition
En1tm1Alj/En1tm1Alj
Tg(Wnt1-En1)1Amc/0
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
Tg(Wnt1-En1)1Amc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• perinatal brain lethality is rescued

nervous system
• brain abnormalities rescued

limbs/digits/tail
• ectopic hair growth on the ventral surface of the anterior digits
• related to ectopic ventral expression of Lmx-1B
• dorsal foot pads at the distal tips of digits 2 and 3 in 3 of 7 mice




Genotype
MGI:4421431
cx10
Allelic
Composition
En1tm1Alj/En1tm8.1Alj
En2tm1Alj/En2tm7.1Alj
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
En1tm8.1Alj mutation (1 available); any En1 mutation (34 available)
En2tm1Alj mutation (1 available); any En2 mutation (104 available)
En2tm7.1Alj mutation (0 available); any En2 mutation (104 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• in the hemispheres, CrusII and Paramedian are only partially separated.
• in adults, only one or two major anterior lobules are present, and lobule VIII is very small and fused with dorsal lobule IX.




Genotype
MGI:3718800
cx11
Allelic
Composition
En1tm1Alj/En1+
En2tm1Alj/En2tm1Alj
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
En2tm1Alj mutation (1 available); any En2 mutation (104 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• normal cerebellum




Genotype
MGI:3718799
cx12
Allelic
Composition
En1tm1Alj/En1tm1Alj
En2tm1Alj/En2+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
En2tm1Alj mutation (1 available); any En2 mutation (104 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system




Genotype
MGI:3849436
cx13
Allelic
Composition
En1tm1Alj/En1tm1Alj
Rfngtm1Tfv/Rfng+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
Rfngtm1Tfv mutation (0 available); any Rfng mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• at E10.5 the AER appears flattened and ventrally expanded
• by E11.5, clefts and bifurcations are seen along with ventral anterior nubs
• 2 distinct ectodermal ridges are present

embryo
• at E10.5 the AER appears flattened and ventrally expanded
• by E11.5, clefts and bifurcations are seen along with ventral anterior nubs
• 2 distinct ectodermal ridges are present




Genotype
MGI:3849435
cx14
Allelic
Composition
En1tm1Alj/En1tm1Alj
Rfngtm1Tfv/Rfngtm1Tfv
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
Rfngtm1Tfv mutation (0 available); any Rfng mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• indistinguishable from mice with one wild-type Rfng allele at all stages examined
• at E10.5 the AER appears flattened and ventrally expanded
• by E11.5, clefts and bifurcations are seen along with ventral anterior nubs
• 2 distinct ectodermal ridges are present

embryo
• at E10.5 the AER appears flattened and ventrally expanded
• by E11.5, clefts and bifurcations are seen along with ventral anterior nubs
• 2 distinct ectodermal ridges are present




Genotype
MGI:3715514
cx15
Allelic
Composition
En1tm1Alj/En1tm1Alj
Moen3C57BL/6/Moen3C57BL/6
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
Moen3C57BL/6 mutation (0 available); any Moen3 mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• promotes normal cerebellar development despite the presence of the En1tm1Alj mutation




Genotype
MGI:3715513
cx16
Allelic
Composition
En1tm1Alj/En1tm1Alj
Moen2C57BL/6/Moen2C57BL/6
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
Moen2C57BL/6 mutation (0 available); any Moen2 mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• promotes normal cerebellar development despite the presence of the En1tm1Alj mutation




Genotype
MGI:3715512
cx17
Allelic
Composition
En1tm1Alj/En1tm1Alj
Moen1C57BL/6/Moen1C57BL/6
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm1Alj mutation (2 available); any En1 mutation (34 available)
Moen1C57BL/6 mutation (0 available); any Moen1 mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• promotes normal cerebellar development despite the presence of the En1tm1Alj mutation





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory