Phenotypes associated with this allele

• Allele Symbol: Suz12^tm1Xmir
• Allele Name: targeted mutation 1, Xavier Miro
• Allele ID: MGI:3850246
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Suz12^tm1Xmir/Suz12^tm1Xmir	Not Specified	MGI:3850320
ht2	Suz12^tm1Xmir/Suz12^+	Not Specified	MGI:3850321

Genotype
MGI:3850320

hm1

• Allelic Composition: Suz12^tm1Xmir/Suz12^tm1Xmir
• Genetic Background: Not Specified

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:150128 )

• author states that mice exhibit early lethality as reported in Suz12^{Gt(Betageo)1Khe} homozygotes

Genotype
MGI:3850321

ht2

• Allelic Composition: Suz12^tm1Xmir/Suz12⁺
• Genetic Background: Not Specified

nervous system

spina bifida ( J:150128 )

• in some mice

diastematomyelia ( J:150128 )

• some mice exhibit diastematomyelia, splitting of the spinal cord, due to bony septa in lumbar L3 and L4 vertebrae unlike in wild-type mice

abnormal brain morphology ( J:150128 )

• 60% of mice exhibit abnormal brain morphology

• brain gray matter is lost in a gradient in some mice unlike in wild-type mice

hydrocephaly ( J:150128 )

• some mice develop secondary hydrocephalus unlike in wild-type mice

decreased corpus callosum size ( J:150128 )

• partial agenesis in some mice

increased inferior colliculus size ( J:150128 )

• in most mice

increased superior colliculus size ( J:150128 )

• in most mice

enlarged tectum ( J:150128 )

• in most mice due to increased cellular proliferation

abnormal hippocampus morphology ( J:150128 )

• some mice exhibit deformations in the hippocampal cortex unlike in wild-type mice

abnormal cerebral cortex morphology ( J:150128 )

• in most mice, the posterior cortex is smaller than in wild-type mice due to reduced cellular proliferation

abnormal stratification in cerebral cortex ( J:150128 )

• disorganized in some mice

abnormal cerebellum morphology ( J:150128 )

• in pronounced cases, dramatic cerebellar herniation through the foramen magnum is observed with secondary hydrocephalus unlike in wild-type mice

• MRI imaging shows herniation of the cerebellar paraflocculus into the foramen magnum with crowded posterior fosssa in some mice unlike in wild-type mice

behavior/neurological

abnormal posture ( J:150128 )

• in severe cases, mice exhibit proturbated backs unlike wild-type mice

hindlimb paralysis ( J:150128 )

• in severe cases

embryo

spina bifida ( J:150128 )

• in some mice

diastematomyelia ( J:150128 )

• some mice exhibit diastematomyelia, splitting of the spinal cord, due to bony septa in lumbar L3 and L4 vertebrae unlike in wild-type mice

skeleton

diastematomyelia ( J:150128 )

• some mice exhibit diastematomyelia, splitting of the spinal cord, due to bony septa in lumbar L3 and L4 vertebrae unlike in wild-type mice