Phenotypes associated with this allele

• Allele Symbol: Psen1^tm1Shs
• Allele Name: targeted mutation 1, Takuji Shirasawa
• Allele ID: MGI:3051523
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Psen1^tm1Shs/Psen1^tm1Shs	involves: 129X1/SvJ * C57BL/6	MGI:3052336
hm2	Psen1^tm1Shs/Psen1^tm1Shs	involves: C57BL/6	MGI:3052338
hm3	Psen1^tm1Shs/Psen1^tm1Shs	Not Specified	MGI:3029929
cx4	Mesp2^tm4Ysa/Mesp2^tm4Ysa Psen1^tm1Shs/Psen1^tm1Shs	involves: C57BL/6 * CBA	MGI:3715287
cx5	Mesp2^tm5(Notch1)Ysa/Mesp2^tm5(Notch1)Ysa Psen1^tm1Shs/Psen1^tm1Shs	involves: C57BL/6 * CBA	MGI:3715289

Genotype
MGI:3052336

hm1

• Allelic Composition: Psen1^tm1Shs/Psen1^tm1Shs
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

cardiovascular system

supravalvar pulmonary trunk stenosis ( J:91716 )

• at E12.5 the diameter of the pulmonary trunk is reduced in to 53% of wild-type

double outlet right ventricle ( J:91716 )

• double outlet right ventricle is seen in all mutants at E13.5 and in more than half of mutants at E15.5

ventricular septal defect ( J:91716 )

• ventricular septal defects are seen at E15.5 in most mutant hearts

Genotype
MGI:3052338

hm2

• Allelic Composition: Psen1^tm1Shs/Psen1^tm1Shs
• Genetic Background: involves: C57BL/6

mortality/aging

prenatal lethality, complete penetrance ( J:91975 )

• no living homozygous pups are found

cardiovascular system

intracranial hemorrhage ( J:91975 )

• intracranial hemorrhages are seen late in gestation

embryo

decreased embryo size ( J:91975 )

• homozygous embryos are smaller than normal

growth/size/body

decreased embryo size ( J:91975 )

• homozygous embryos are smaller than normal

limbs/digits/tail

short tail ( J:91975 )

• embryos have short tails

nervous system

intracranial hemorrhage ( J:91975 )

• intracranial hemorrhages are seen late in gestation

abnormal neuron differentiation ( J:91975 )

• increased proliferation of neuronal precursors is seen in the neocortical primordium at E14 - E16

• neuronal cell cycle length is increased probably as a result of an increase in S-phase length

premature neuronal precursor differentiation ( J:91975 )

• premature differentiation neuronal precursors is seen in the neocortical primordium at E14 - E16

enhanced neuronal migration ( J:91975 )

• increased migration of immature neurons is seen in the neocortical primordium at E14 - E16

abnormal neuronal precursor proliferation ( J:91975 )

• increased proliferation of neuronal precursors is seen in the neocortical primordium at E14 - E16

abnormal stratification in cerebral cortex ( J:91975 )

• cortical stratification is altered

increased neuronal precursor cell number ( J:91975 )

cellular

abnormal neuron differentiation ( J:91975 )

• increased proliferation of neuronal precursors is seen in the neocortical primordium at E14 - E16

• neuronal cell cycle length is increased probably as a result of an increase in S-phase length

premature neuronal precursor differentiation ( J:91975 )

• premature differentiation neuronal precursors is seen in the neocortical primordium at E14 - E16

enhanced neuronal migration ( J:91975 )

• increased migration of immature neurons is seen in the neocortical primordium at E14 - E16

abnormal neuronal precursor proliferation ( J:91975 )

• increased proliferation of neuronal precursors is seen in the neocortical primordium at E14 - E16

Genotype
MGI:3029929

hm3

• Allelic Composition: Psen1^tm1Shs/Psen1^tm1Shs
• Genetic Background: Not Specified

skeleton

abnormal thoracic cage morphology ( J:67969 )

• deformities of the rib cage are more prominent than in Psen1^tm1Hko homozygous mutants

abnormal rib morphology ( J:67969 )

• multiple defects in the ribs that include missing proximal parts of the ribs

abnormal vertebral column morphology ( J:67969 )

• multiple defects in the vertebral column

abnormal vertebral lamina morphology ( J:67969 )

• the laminae are irregularly shaped

absent vertebral pedicles ( J:67969 , J:78989 )

• the pedicles of the neural arches are missing (J:67969)

abnormal vertebral body morphology ( J:67969 )

• the vertebral bodies are irregularly shaped

abnormal sclerotome morphology ( J:67969 )

• segmentation of the sclerotome is impaired at E9.5

embryo

abnormal dorsal-ventral polarity of the somites ( J:67969 )

• the expression of a marker for the caudal half of the somite is completely missing, indicating a defect in caudal half somite development

growth/size/body

omphalocele ( J:67969 )

• umbilical herniation in all pups

Genotype
MGI:3715287

cx4

• Allelic Composition: Mesp2^tm4Ysa/Mesp2^tm4Ysa; Psen1^tm1Shs/Psen1^tm1Shs
• Genetic Background: involves: C57BL/6 * CBA

skeleton

abnormal vertebral arch morphology ( J:78989 )

• mice have the same skeletal defects as Mesp2^tm4Ysa homozygotes

Genotype
MGI:3715289

cx5

• Allelic Composition: Mesp2^{tm5(Notch1)Ysa}/Mesp2^{tm5(Notch1)Ysa}; Psen1^tm1Shs/Psen1^tm1Shs
• Genetic Background: involves: C57BL/6 * CBA

skeleton

abnormal vertebral arch morphology ( J:78989 )

• the metameric appearance of the axial skeleton is partially restored compared to Psen1^tm1Hko homozygotes

• ossicification centers of the pedicles are not completely fused and are irregularly segmented