Phenotypes associated with this allele

• Allele Symbol: Gli2^tm6Alj
• Allele Name: targeted mutation 6, Alexandra L Joyner
• Allele ID: MGI:3664541
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	En1^tm2(cre)Gld/En1^+ Gli2^tm1Alj/Gli2^tm6Alj	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster	MGI:3665558
cn2	En1^tm2(cre)Gld/En1^+ Gli1^tm2Alj/Gli1^tm2Alj Gli2^tm1Alj/Gli2^tm6Alj	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster	MGI:3665567
cn3	Gli2^tm1Alj/Gli2^tm6Alj Tg(Nes-cre)1Kln/0	involves: 129/Sv * C57BL/6 * SJL * Swiss Webster	MGI:3665562

Genotype
MGI:3665558

cn1

• Allelic Composition: En1^tm2(cre)Gld/En1⁺; Gli2^tm1Alj/Gli2^tm6Alj
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster

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

growth/size/body

decreased body size ( J:108507 )

• adults are ~75% of size of wild-type littermates

behavior/neurological

tremors ( J:108507 )

• mice show deficits in motor control such as intention tremors consistent with cerebellar defects

impaired balance ( J:108507 )

• mutants have balance problems

abnormal gait ( J:108507 )

• mice have a wide-based gait

nervous system

nervous system phenotype ( J:108507 )

N • cerebella are similar in volume and thickness to wild-type at E16.5 and do not show the same defects as non-conditional Shh-null animals at that time point

abnormal cerebellar lobule formation ( J:108507 )

• number of lobules in addition to cardinal lobes in vermis and hemispheres is greatly reduced compared to wild-type

abnormal cerebellum external granule cell layer morphology ( J:108507 )

• at birth, EGL of mutants is only one or two cell layers thick compared to 2-4 layers in wild-type; at P5, EGL is only 1 to 4 layers thick compared to 8 to 10 in wild-type

• difference is more apparent at the base of fissures than at crown of lobe

• reduced thickness correlates with delayed onset of foliation and reduced complexity

thin external granule cell layer ( J:108507 )

• at birth, EGL of mutants is only one or two cell layers thick compared to 2-4 layers in wild-type; at P5, EGL is only 1 to 4 layers thick compared to 8 to 10 in wild-type

• difference is more apparent at the base of fissures than at crown of lobe

• reduced thickness correlates with delayed onset of foliation and reduced complexity

abnormal cerebellar Purkinje cell layer ( J:108507 )

• Purkinje cells (PCs) remain multilayered in mutants instead of forming a monolayer as in wild-type

• glial fibers of Bergmann glia are misshapen and disorganized compared to linear, ordered morphology in wild-type

abnormal cerebellar granule layer morphology ( J:108507 )

• internal granule layer (IGL) is thinner compared to wild-type

abnormal cerebellar molecular layer ( J:108507 )

• dendritic arborization of PCs in molecular layer is less branched than normal

abnormal cerebellum vermis morphology ( J:108507 )

• central lobe is divided by a shallow fissure

abnormal cerebellum anterior vermis morphology ( J:108507 )

• fissure dividing anterobasal lobe is absent or shallow in most mutant brains

small cerebellum ( J:108507 )

• adult brains show an extreme decrease in size compared to wild-type while rest of brain appears normal in size

• mediolateral (ML) extent is not as drastically reduced in length compared with anteroposterior (AP) axis

• cerebellum does not increase in size after P8 while in wild-type it grows until P16; only slight growth occurs between P5 and P8; surface area is reduced

Genotype
MGI:3665567

cn2

• Allelic Composition: En1^tm2(cre)Gld/En1⁺; Gli1^tm2Alj/Gli1^tm2Alj; Gli2^tm1Alj/Gli2^tm6Alj
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster

nervous system

abnormal cerebellum morphology ( J:108507 )

• cerebellum has decreased number of fissures compared to conditional Gli2 knockouts

abnormal cerebellum development ( J:108507 )

• only the five cardinal lobes of cerebellum can be discerned; other lobules do not form

abnormal cerebellar foliation ( J:108507 )

• decreased number of lobules (abnormal foliation) is observed

Genotype
MGI:3665562

cn3

• Allelic Composition: Gli2^tm1Alj/Gli2^tm6Alj; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL * Swiss Webster

nervous system

abnormal cerebellar foliation ( J:108507 )

• foliation occurs to a greater extent, with the vermis having a more defined intercrural structure and thicker IGL than in Gli2;En1 conditional knockouts