Phenotypes associated with this allele

• Allele Symbol: En1^tm2(cre)Gld
• Allele Name: targeted mutation 2, Martyn Goulding
• Allele ID: MGI:3029756
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	En1^tm2(cre)Gld/En1^tm2(cre)Gld	involves: 129S1/Sv	MGI:3029760
cn2	En1^tm2(cre)Gld/En1^+ Gt(ROSA)26Sor^tm1(DTA)Riet/Gt(ROSA)26Sor^+	involves: 129P2/OlaHsd * 129S1/Sv	MGI:3839921
cn3	En1^tm2(cre)Gld/En1^+ Tg(CAG-Bgeo,-AlstR,-EGFP)192Gld/0	involves: 129S1/Sv	MGI:3839922
cn4	En1^tm2(cre)Gld/En1^+ Gli2^tm1Alj/Gli2^tm6Alj	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster	MGI:3665558
cn5	En1^tm2(cre)Gld/En1^+ Gli1^tm2Alj/Gli1^tm2Alj Gli2^tm1Alj/Gli2^tm6Alj	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster	MGI:3665567

Genotype
MGI:3029760

hm1

• Allelic Composition: En1^tm2(cre)Gld/En1^tm2(cre)Gld
• Genetic Background: involves: 129S1/Sv

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:87771 )

• most mutants die at birth, although a few survive to adulthood

nervous system

abnormal synapse morphology ( J:87771 )

• mutants exhibit fewer Renshaw cell-derived calbindin-positive contacts onto motor neurons, indicating a reduction in recurrent inhibitory synapses, however the total number of gephyrin-positive inhibitory synapses in the motor neurons is normal

Genotype
MGI:3839921

cn2

• Allelic Composition: En1^tm2(cre)Gld/En1⁺; Gt(ROSA)26Sor^tm1(DTA)Riet/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv

nervous system

abnormal ventral interneuron 1 morphology ( J:106437 )

• decrease in the number of V1 neurons in the spinal cord

abnormal CNS synaptic transmission ( J:106437 )

• significant increase in the length of both step cycle period and motor neuron burst duration during fictive locomotion

Genotype
MGI:3839922

cn3

• Allelic Composition: En1^tm2(cre)Gld/En1⁺; Tg(CAG-Bgeo,-AlstR,-EGFP)192Gld/0
• Genetic Background: involves: 129S1/Sv

nervous system

abnormal CNS synaptic transmission ( J:106437 )

• decrease in V1 neuron excitability in response to current steps and ramps after allatostatin treatment

• application of allatostatin to spinal cords increases the length of the step cycle period

Genotype
MGI:3665558

cn4

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

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

cn5

• 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