Phenotypes associated with this allele

• Allele Symbol: Mapk8ip3^tm1Plhn
• Allele Name: targeted mutation 1, Pyung-Lim Han
• Allele ID: MGI:3527900
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mapk8ip3^tm1Plhn/Mapk8ip3^tm1Plhn	involves: 129S4/SvJae * C57BL/6	MGI:4888577
hm2	Mapk8ip3^tm1Plhn/Mapk8ip3^tm1Plhn	involves: 129S4/SvJae * C57BL/6J	MGI:3528180

Genotype
MGI:4888577

hm1

• Allelic Composition: Mapk8ip3^tm1Plhn/Mapk8ip3^tm1Plhn
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:136735 )

• newborn homozygotes die shortly after birth

homeostasis/metabolism

cyanosis ( J:136735 )

• newborn homozygotes display severe cyanosis

respiratory system

abnormal lung vasculature morphology ( J:136735 )

• impaired pulmonary vasculogensis at E17.5-E18.5

abnormal lung development ( J:136735 )

• impaired vasculogensis and alveolar saccule complex formation at E17.5-E18.5

• dysregulated expression of transcription factors involved in lung morphogenesis at E17.5-E18.5

• altered expression of cytoskeletal and chaperone proteins in the developing lung

• normal gross lung morphology until E16.5

abnormal lung saccule morphology ( J:136735 )

• underdeveloped airways and alveolar saccules are observed at E17.5-E18.5

respiratory failure ( J:136735 )

• newborn homozygotes die shortly after birth due to respiratory failure

cardiovascular system

abnormal lung vasculature morphology ( J:136735 )

• impaired pulmonary vasculogensis at E17.5-E18.5

Genotype
MGI:3528180

hm2

• Allelic Composition: Mapk8ip3^tm1Plhn/Mapk8ip3^tm1Plhn
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

mortality/aging

neonatal lethality, complete penetrance ( J:95744 )

• homozygotes die within 15-20 minutes of birth

homeostasis/metabolism

cyanosis ( J:95744 )

respiratory system

respiratory failure ( J:95744 )

• a gradual decrease in breathing is seen after birth

nervous system

abnormal axon guidance ( J:95744 )

abnormal neuronal migration ( J:95744 )

• the glial sling cells (a migratory population of developing neurons) are diffusely distributed in the subventricular zone near the glial wedge and ectopically in the septum area

enlarged brain ventricles ( J:95744 )

• asymmetrically enlarged ventricles were seen in some mutants

abnormal anterior commissure morphology ( J:95744 )

• the anterior and posterior branches of the anterior commissure join normally but fail to reach the midline

abnormal anterior commissure pars anterior morphology ( J:95744 )

abnormal anterior commissure pars posterior morphology ( J:95744 )

abnormal optic tract morphology ( J:95744 )

• the cross-sectional diameter of the optic nerve tracts and size of the optic chiasm are increased and most optic nerve fibers fail to reach the lateral geniculate nucleus of the thalamus

abnormal diencephalon morphology ( J:95744 )

abnormal thalamus morphology ( J:95744 )

• 14 out of 35 homozygotes lack the anterior dorsal areas of the thalamus and have poor midline fusion of the two hemispheres in the dorsal side of the thalamus

• most optic nerve fibers fail to reach the lateral geniculate nucleus of the thalamus

abnormal telencephalon morphology ( J:95744 )

abnormal telencephalon development ( J:95744 )

abnormal cortical marginal zone morphology ( J:95744 )

• calretinin-positive cell migration is delayed resultin in areas in the marginal zone that are devoid of these cells

thin cortical plate ( J:95744 )

• the width of the cortical plate is reduced

abnormal subplate morphology ( J:95744 )

• the subplate is shifted outwards

abnormal corpus callosum morphology ( J:95744 )

• axon tracts of the corpus collosum fail to cross the midline and in the cingulate cortex form abnormal neuroma-like structures (Probst's bundles)

abnormal hippocampus morphology ( J:95744 )

abnormal hippocampal fimbria morphology ( J:95744 )

• the diameter of the fimbria tract is enlarged

increased hippocampal fornix size ( J:95744 )

• the diameter of the fornix tract is enlarged and the main body and columns of the fornix heading towards the mammilary body are missing

abnormal cerebral cortex morphology ( J:95744 )

• in the cingulate cortex axons of the corpus callosum form abnormal neuroma-like structures (Probst's bundles)

• the band of the intermediate zone in the cortex is abnormally expanded

• thalamocortical and corticofugal tracts are abnormally thick and over fasciculated and the number of SNAP-25 positive thalamocortical axon bundles at the corticostriatal junction are reduced by about 50%

• the number of thalamocortical and corticofugal calretinin-positive axon fibers in the subplate and external capsule regions are reduced and many of these fibers do not successfully pass up or down the corticostriatal junction

abnormal cerebral cortex pyramidal cell morphology ( J:95744 )

• the apical dendrites of the pyramidal neurons in the prefrontal cortex are slim and branched abnormally

abnormal frontal lobe morphology ( J:95744 )

abnormal parietal lobe morphology ( J:95744 )

abnormal CNS glial cell morphology ( J:95744 )

• the hippocampal and fimbrial glia are slightly less mature in homozygotes compared to wild-type mice

increased optic chiasm size ( J:95744 )

• the size of the optic chiasm is increased

vision/eye

increased optic chiasm size ( J:95744 )

• the size of the optic chiasm is increased

cellular

abnormal axon guidance ( J:95744 )

abnormal neuronal migration ( J:95744 )

• the glial sling cells (a migratory population of developing neurons) are diffusely distributed in the subventricular zone near the glial wedge and ectopically in the septum area