Phenotypes associated with this allele

• Allele Symbol: Gbx2^tm1.1Alj
• Allele Name: targeted mutation 1.1, Alexandra L Joyner
• Allele ID: MGI:2388610
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gbx2^tm1.1Alj/Gbx2^tm1.1Alj	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6	MGI:3790203
ht2	Gbx2^tm1.1Mrt/Gbx2^tm1.1Alj	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * SJL	MGI:3790204
cn3	En1^tm2(cre)Wrst/En1^+ Gbx2^tm1.1Mrt/Gbx2^tm1.1Alj	involves: 129/Sv * C57BL/6 * SJL * Swiss Webster	MGI:3790208

Genotype
MGI:3790203

hm1

• Allelic Composition: Gbx2^tm1.1Alj/Gbx2^tm1.1Alj
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

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

normal phenotype

no abnormal phenotype detected ( J:79431 )

• no abnormal phenotypes are observed in homozygous mice

Genotype
MGI:3790204

ht2

• Allelic Composition: Gbx2^tm1.1Mrt/Gbx2^tm1.1Alj
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:79431 )

• no abnormal phenotypes are observed in homozygous mice

Genotype
MGI:3790208

cn3

• Allelic Composition: En1^tm2(cre)Wrst/En1⁺; Gbx2^tm1.1Mrt/Gbx2^tm1.1Alj
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL * Swiss Webster

mortality/aging

mortality/aging ( J:79431 )

N • more than half of the mice survive past weaning, are fertile and nurture their offspring normally

postnatal lethality, incomplete penetrance ( J:79431 )

• some mutants are found dead prior to weaning age

growth/size/body

decreased body weight ( J:79431 )

• surviving mutants weigh less than wild-type littermates

abnormal postnatal growth ( J:79431 )

• surviving mutants (adults) are smaller than littermates

nervous system

nervous system phenotype ( J:79431 )

N • cerebellar hemisphere development and cytoarchitecture of cerebellum are essentially normal

decreased embryonic neuroepithelium thickness ( J:79431 )

• at E12.5, neuroepithelium of medial cerebellar anlage is thinner than in wild-type with abnormal indents found in the ventricular layer

abnormal cerebellum development ( J:79431 )

• at E10.5, mesencephalon is expanded caudally and alar plate of r1 is significantly reduced

• medial region of cerebellar primordium is reduced in size from E12.5 to 18.5

• increased cell proliferation is observed in indents into ventricular layer, resulting in small cell aggregates in ventricular layer at E14.5; large cell aggregates are observed in medial cerebella of mutants at E18.5

• however, no cell aggregates are seen in cerebella of 8-week old mutants

abnormal cerebellar foliation ( J:79431 )

• foliation pattern is disrupted in adults

• in adult mutants all lobules are reduced in size to varying extents with lobules V and IX less affected

abnormal midbrain development ( J:79431 )

• at E10.5, the mesencephalon is expanded caudally

abnormal midbrain-hindbrain boundary morphology ( J:79431 )

• at E9.5, isthmic constriction dividing the mesencephalon and rhombomere 1 (r1) at dorsal midline is less prominent than in wild-type

increased inferior colliculus size ( J:79431 )

cerebellum vermis hypoplasia ( J:79431 )

decreased embryonic neuroepithelial cell proliferation ( J:79431 )

• proliferation in the medial region of the cerebellum is reduced compared to wild-type

embryo

decreased embryonic neuroepithelium thickness ( J:79431 )

• at E12.5, neuroepithelium of medial cerebellar anlage is thinner than in wild-type with abnormal indents found in the ventricular layer