Phenotypes associated with this allele

• Allele Symbol: Psen1^tm2Psgh
• Allele Name: targeted mutation 2, Peter St George-Hyslop
• Allele ID: MGI:2446469
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Psen1^tm2Psgh/Psen1^tm2Psgh	involves: 129S1/Sv * 129X1/SvJ	MGI:3702936

Genotype
MGI:3702936

hm1

• Allelic Composition: Psen1^tm2Psgh/Psen1^tm2Psgh
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

premature death ( J:80624 )

• the remaining 17 mutants die between 3 and 6 weeks of age

postnatal lethality, incomplete penetrance ( J:80624 )

• 12 of 29 mutants die within 21 days after birth

prenatal lethality, incomplete penetrance ( J:80624 )

• only 12%, instead of the expected 25%, of homozygotes are born, indicating in utero loss

growth/size/body

decreased body size ( J:80624 )

• homozygotes that survive to 6 weeks of age are smaller than wild-type

behavior/neurological

hindlimb paralysis ( J:80624 )

• 53% of mutants that survive to 6 weeks of age have hind limb paralysis

• hindlimb paralysis coincides with transection of the spinal cord

cardiovascular system

intracranial hemorrhage ( J:80624 )

• mutants that die perinatally have extensive areas of recent infarction with hemorrhages throughout the forebrain

spinal hemorrhage ( J:80624 )

• most severe defects result in complete spinal cord transection with hemorrhage

limbs/digits/tail

short tail ( J:80624 )

• mutants that survive to 6 weeks of age have shortened tails

kinked tail ( J:80624 )

• mutants that survive to 6 weeks of age have severely kinked tails

nervous system

nervous system phenotype ( J:80624 )

N • no lesions of the brain are observed and cortical plates and ventricles appear normal

intracranial hemorrhage ( J:80624 )

• mutants that die perinatally have extensive areas of recent infarction with hemorrhages throughout the forebrain

spinal hemorrhage ( J:80624 )

• most severe defects result in complete spinal cord transection with hemorrhage

abnormal forebrain morphology ( J:80624 )

• mutants that die perinatally have extensive areas of recent infarction with hemorrhages throughout the forebrain

abnormal spinal cord morphology ( J:80624 )

• compression and/or transection of the spinal cord due to bony or cartilaginous projections from vertebral bodies into the spinal cord

• areas of spinal compression show scattered myelin debris, demyelination, and marked gliosis

skeleton

abnormal axial skeleton morphology ( J:80624 )

• mutants have severe axial skeletal deformities

abnormal vertebral column morphology ( J:80624 )

• mutants that survive to 6 weeks of age have deformed vertebral columns

abnormal vertebrae morphology ( J:80624 )

• in several cases, vertebrae are so malformed that several bodies share a single intervertebral space, resulting in a misalignment of intervertebral spaces and joints

abnormal vertebral lamina morphology ( J:80624 )

• mutants that survive to 6 weeks of age have malformed dorsal laminae

abnormal vertebral body morphology ( J:80624 )

• mutants that survive to 6 weeks of age have malformed vertebral bodies that appear as anomalous structures composed of hyaline cartilage, bone, and marrow cells in a disorganized admixture of tissue

• vertebral body malformations are often associated with bony or cartilaginous projections into the spinal cord, resulting in compression and/or transection