Phenotypes associated with this allele

• Allele Symbol: Pak4^tm1Amin
• Allele Name: targeted mutation 1, Audrey Minden
• Allele ID: MGI:2679635
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pak4^tm1Amin/Pak4^tm1Amin	either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129S2/SvPas * C57BL/6J)	MGI:4360347
hm2	Pak4^tm1Amin/Pak4^tm1Amin	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S2/SvPas * C57BL/6)	MGI:2679651

Genotype
MGI:4360347

hm1

• Allelic Composition: Pak4^tm1Amin/Pak4^tm1Amin
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129S2/SvPas * C57BL/6J)

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

embryo

abnormal placenta vasculature ( J:152821 )

• at E10.5, vascular invasion fails after chorioallantoic fusion unlike in wild-type mice

embryonic growth retardation ( J:152821 )

• severe at E10.5

decreased embryo size ( J:152821 )

• slightly at E9.5, markedly at E10.5

abnormal placenta labyrinth morphology ( J:152821 )

• at E10.5, the placenta labyrinth is compact with reduced thickness and fewer embryonic blood vessels compared to in wild-type mice

pale placenta ( J:152821 )

• slightly at E9.5, markedly at E10.5

abnormal visceral yolk sac morphology ( J:152821 )

• at E10.5, yolk sacs are thicker and rougher than wild-type yolk sacs

pale yolk sac ( J:152821 )

• at E10.5

abnormal vitelline vascular remodeling ( J:152821 )

• at E10.5, large vitelline vessels are absent with only the honeycomb-like plexus present

• at E10.5, yolk sac vessels are dilated and contain fewer blood cells than in wild-type mice

growth/size/body

embryonic growth retardation ( J:152821 )

• severe at E10.5

decreased embryo size ( J:152821 )

• slightly at E9.5, markedly at E10.5

cellular

increased apoptosis ( J:152821 )

• at E10.5, especially in the nervous system

decreased cell proliferation ( J:152821 )

• at E10.5, especially in the nervous system

cardiovascular system

abnormal placenta vasculature ( J:152821 )

• at E10.5, vascular invasion fails after chorioallantoic fusion unlike in wild-type mice

integument

pallor ( J:152821 )

• slightly at E9.5, markedly at E10.5

Genotype
MGI:2679651

hm2

• Allelic Composition: Pak4^tm1Amin/Pak4^tm1Amin
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S2/SvPas * C57BL/6)

muscle

thin myocardium ( J:85954 )

• at E10.5, homozygotes display thinning of the myocardial walls of the bulbus cordis and ventricles

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:85954 )

• no homozygotes are obtained after E10.5, putatively due to a defect in the fetal heart

• only partly resorbed embryos are detected at E11.5

growth/size/body

decreased embryo size ( J:85954 )

• at E9.5, mutant embryos are generally smaller than wild-type embryos

cardiovascular system

thin myocardium ( J:85954 )

• at E10.5, homozygotes display thinning of the myocardial walls of the bulbus cordis and ventricles

thin ventricular wall ( J:85954 )

• at E10.5, homozygotes display thinning of the primitive ventricular wall

dilated heart ( J:85954 )

• at E10.5, the atrium and/or sinus venosus region of the heart appears distended and dilated

nervous system

abnormal neuronal migration ( J:85954 )

• unlike wild-type embryos where neurofilament positive cells are located at the lateral edge of the hindbrain, mutant embryos display a small number of neurofilament positive cells both medially and laterally, suggesting a defect in neuronal migration

• at E9.5, mutant spinal cord motor neurons are not located in their proper lateral positions, indicating a corresponding defect in motor neuron migration

abnormal brain morphology ( J:85954 )

• at E9.5, mutant brains appear wavy, probably due to postmortem collapse of the thin neuroepithelial walls

• at E10.5, mutant embryos display a large empty area in the head region in H&E-stained sagittal sections

abnormal nervous system development ( J:85954 )

• at E9.5, mutant embryos are translucent around the head and neural tube regions

abnormal neuron differentiation ( J:85954 )

• at E9.5, homozygotes exhibit lack of neuronal differentiation and a concomittant reduction in cell size due to impaired axonal outgrowth

abnormal axon extension ( J:85954 )

• at E9.5, homozygotes display defective axonal outgrowth in the hindbrain, as shown by staining with anti-neurofilament antibody

abnormal neural tube morphology ( J:85954 )

• at E9.5, an improper folding appears to occur between the ventral and dorsal parts of the caudal neural tube, resulting in the formation of two neural lumens

• however, the dorsal-ventral patterning appears normal in mutant neural tubes

decreased embryonic neuroepithelium thickness ( J:85954 )

• at E9.5, the neuroepithelium around the hindbrain and forebrain is strikingly thinner than normal

• at E9.5, the defects in neuroepithelium are not associated with a severe defect in proliferation or an increase in apoptosis, although sporadic TUNEL-positive staining is observed in tissues outside the neuroepithelium at this stage

abnormal motor neuron morphology ( J:85954 )

• at E9.5, homozygotes show failure of spinal cord motor neurons to differentiate

abnormal ventral interneuron morphology ( J:85954 )

• at E9.5, homozygotes display failure of developing ventral interneurons to differentiate

embryo

decreased embryo size ( J:85954 )

• at E9.5, mutant embryos are generally smaller than wild-type embryos

abnormal neural tube morphology ( J:85954 )

• at E9.5, an improper folding appears to occur between the ventral and dorsal parts of the caudal neural tube, resulting in the formation of two neural lumens

• however, the dorsal-ventral patterning appears normal in mutant neural tubes

decreased embryonic neuroepithelium thickness ( J:85954 )

• at E9.5, the neuroepithelium around the hindbrain and forebrain is strikingly thinner than normal

• at E9.5, the defects in neuroepithelium are not associated with a severe defect in proliferation or an increase in apoptosis, although sporadic TUNEL-positive staining is observed in tissues outside the neuroepithelium at this stage

cellular

abnormal cell adhesion ( J:85954 )

• when grown in serum-free medium, cells isolated from E9.5 mutant, but not wild-type, embryos show significant levels of focal adhesions, as evidenced by large clusters of vinculin

abnormal neuron differentiation ( J:85954 )

• at E9.5, homozygotes exhibit lack of neuronal differentiation and a concomittant reduction in cell size due to impaired axonal outgrowth

abnormal axon extension ( J:85954 )

• at E9.5, homozygotes display defective axonal outgrowth in the hindbrain, as shown by staining with anti-neurofilament antibody

abnormal neuronal migration ( J:85954 )

• unlike wild-type embryos where neurofilament positive cells are located at the lateral edge of the hindbrain, mutant embryos display a small number of neurofilament positive cells both medially and laterally, suggesting a defect in neuronal migration

• at E9.5, mutant spinal cord motor neurons are not located in their proper lateral positions, indicating a corresponding defect in motor neuron migration