Phenotypes associated with this allele

• Allele Symbol: En1^tm8.1Alj
• Allele Name: targeted mutation 8.1, Alexandra L Joyner
• Allele ID: MGI:3789091
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	En1^tm2(cre)Wrst/En1^tm8.1Alj	involves: 129/Sv * Black Swiss * C57BL/6 * SJL	MGI:3789299
cn2	En1^tm1Alj/En1^tm8.1Alj En2^tm1Alj/En2^tm7.1Alj Gt(ROSA)26Sor^tm1(cre/ERT2)Alj/Gt(ROSA)26Sor^+	involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster	MGI:4421427
cn3	En1^tm1Alj/En1^tm8.1Alj En2^tm6Alj/En2^+ Gt(ROSA)26Sor^tm1(cre/ERT2)Alj/Gt(ROSA)26Sor^+	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster	MGI:4421456
cn4	En1^tm1Alj/En1^tm8.1Alj En2^tm1Alj/En2^tm6Alj Gt(ROSA)26Sor^tm1(cre/ERT2)Alj/Gt(ROSA)26Sor^+	involves: 129S2/SvPas * 129S6/SvEvTac * Swiss Webster	MGI:4421433
cn5	En1^tm8.1Alj/En1^+ En2^tm6Alj/En2^+ Gt(ROSA)26Sor^tm1(cre/ERT2)Alj/Gt(ROSA)26Sor^+	involves: 129S6/SvEvTac * Swiss Webster	MGI:4421432
cn6	En1^tm2(cre)Wrst/En1^tm8.1Alj En2^tm2Alj/En2^+	involves: 129/Sv * Black Swiss * C57BL/6 * SJL * Swiss Webster	MGI:3789300
cn7	En1^tm2(cre)Wrst/En1^tm8.1Alj En2^tm2Alj/En2^tm2Alj	involves: 129/Sv * Black Swiss * C57BL/6 * SJL * Swiss Webster	MGI:3789301
cx8	En1^tm1Alj/En1^tm8.1Alj En2^tm1Alj/En2^tm7.1Alj	involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster	MGI:4421431

Genotype
MGI:3789299

cn1

• Allelic Composition: En1^tm2(cre)Wrst/En1^tm8.1Alj
• Genetic Background: involves: 129/Sv * Black Swiss * C57BL/6 * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

abnormal inferior colliculus morphology ( J:134516 )

abnormal cerebellum anterior vermis morphology ( J:134516 )

• in most adult mice, mild foliation defect is observed

• fissure between anterior-most folia I/II and III either fails to form or is shallower than normal in most animals

• at E18.5, vermis may be slightly delayed in forming folia

decreased anterior vermis size ( J:134516 )

• overall size in some mutants is slightly reduced relative to wild-type at E18.5

Genotype
MGI:4421427

cn2

• Allelic Composition: En1^tm1Alj/En1^tm8.1Alj; En2^tm1Alj/En2^tm7.1Alj; Gt(ROSA)26Sor^{tm1(cre/ERT2)Alj}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster

nervous system

abnormal cerebellar foliation ( J:156169 )

abnormal cerebellum hemisphere lobule morphology ( J:156169 )

• when given tamoxifen at E13.5 or E14. the hemisphere phenotype is more severe than in double mutants that do not express Cre

abnormal cerebellum vermis lobule morphology ( J:156169 )

• 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

cn3

• Allelic Composition: En1^tm1Alj/En1^tm8.1Alj; En2^tm6Alj/En2⁺; Gt(ROSA)26Sor^{tm1(cre/ERT2)Alj}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster

nervous system

abnormal cerebellar foliation ( J:156169 )

decreased anterior vermis size ( J:156169 )

• 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.

abnormal cerebellum vermis lobule morphology ( J:156169 )

• 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

cn4

• Allelic Composition: En1^tm1Alj/En1^tm8.1Alj; En2^tm1Alj/En2^tm6Alj; Gt(ROSA)26Sor^{tm1(cre/ERT2)Alj}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * Swiss Webster

mortality/aging

perinatal lethality, complete penetrance ( J:156169 )

• tamoxifen treatment at E9.5, but not at E10.5, results in death at birth

nervous system

abnormal cerebellar granule cell precursor proliferation ( J:156169 )

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

abnormal midbrain morphology ( J:156169 )

• a major deletion of the midbrain is seen when tamoxifen is given at E9.5, but not when given at E10.5

abnormal cerebellum morphology ( J:156169 )

• 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

abnormal cerebellum development ( J:156169 )

• 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

abnormal cerebellar foliation ( J:156169 )

• 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

abnormal cerebellum external granule cell layer morphology ( J:156169 )

• 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

thin external granule cell layer ( J:156169 )

• when tamoxifen treated at E10.5, at P2 thickness is similar to that at E18.5 and thinner than in the controls.

abnormal cerebellum fissure morphology ( J:156169 )

• 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

abnormal cerebellum vermis morphology ( J:156169 )

decreased anterior vermis size ( J:156169 )

• 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

abnormal cerebellum vermis lobule morphology ( J:156169 )

• 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

abnormal cerebellum posterior vermis morphology ( J:156169 )

• 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

cerebellum vermis hypoplasia ( J:156169 )

• when tamoxifen treated at E10.5, at P2 overall size of each region, and thus total number of cells, is greatly reduced

small cerebellum ( J:156169 )

• when given tamoxifen, at P3 the cerebellum is smaller compared to controls

cellular

abnormal cerebellar granule cell precursor proliferation ( J:156169 )

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

Genotype
MGI:4421432

cn5

• Allelic Composition: En1^tm8.1Alj/En1⁺; En2^tm6Alj/En2⁺; Gt(ROSA)26Sor^{tm1(cre/ERT2)Alj}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S6/SvEvTac * Swiss Webster

nervous system

abnormal cerebellar foliation ( J:156169 )

abnormal cerebellum fissure morphology ( J:156169 )

• when tamoxifen is given at E13.5 or E14.5 in adult preculminate (between I-II and III) as lobules I-III are fused

abnormal cerebellum posterior vermis morphology ( J:156169 )

• when tamoxifen is given at E10.5, at P14 lobules VI-VII occupied a greater proportion of the vermis than in wild-type

• when tamoxifen is given at E10.5, at P14 lobules VIII-IX occupied a smaller proportion of the vermis than in wild-type

• when tamoxifen is given at E13.5 or E14.5 in adult the vermis has a foliation pattern that was a milder version than that observed in tamoxifen at 10.5 mutants

• when tamoxifen is given at E13.5 or E14.5 in adult posterior region lobule VIII is shifted posterior and fused with dorsal lobule IX.

• when tamoxifen is given at E13.5 or E14.5 in adult lobules I-V and VIII/IX of the vermis were present more laterally than normal tamoxifen at E13.5 or E14.5 in adult lobules I-III were fused into one lobule

Genotype
MGI:3789300

cn6

• Allelic Composition: En1^tm2(cre)Wrst/En1^tm8.1Alj; En2^tm2Alj/En2⁺
• Genetic Background: involves: 129/Sv * Black Swiss * C57BL/6 * SJL * Swiss Webster

nervous system

absent inferior colliculus ( J:134516 )

• absent at E18.5

decreased superior colliculus size ( J:134516 )

• reduced in size at E18.5

absent cerebellum ( J:134516 )

• at E18.5, no cerebellum is present

Genotype
MGI:3789301

cn7

• Allelic Composition: En1^tm2(cre)Wrst/En1^tm8.1Alj; En2^tm2Alj/En2^tm2Alj
• Genetic Background: involves: 129/Sv * Black Swiss * C57BL/6 * SJL * Swiss Webster

nervous system

absent inferior colliculus ( J:134516 )

• absent at E18.5

absent superior colliculus ( J:134516 )

• absent at E18.5

absent colliculi ( J:134516 )

absent tectum ( J:134516 )

absent cerebellum ( J:134516 )

• at E18.5, no cerebellum is present

Genotype
MGI:4421431

cx8

• Allelic Composition: En1^tm1Alj/En1^tm8.1Alj; En2^tm1Alj/En2^tm7.1Alj
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster

nervous system

abnormal cerebellar foliation ( J:156169 )

abnormal cerebellum hemisphere lobule morphology ( J:156169 )

• in the hemispheres, CrusII and Paramedian are only partially separated.

abnormal cerebellum vermis lobule morphology ( J:156169 )

• in adults, only one or two major anterior lobules are present, and lobule VIII is very small and fused with dorsal lobule IX.