Phenotypes associated with this allele

• Allele Symbol: Scube1^tm1Rbya
• Allele Name: targeted mutation 1, Ruey-Bing Yang
• Allele ID: MGI:3796593
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scube1^tm1Rbya/Scube1^tm1Rbya	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3807663

Genotype
MGI:3807663

hm1

• Allelic Composition: Scube1^tm1Rbya/Scube1^tm1Rbya
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:136534 )

• some mice die shortly after birth with acrania and lack of brain tissue

nervous system

everted embryonic neuroepithelium ( J:136534 )

• cranial neural folds are everted at E12.5

increased embryonic neuroepithelium thickness ( J:136534 )

• at E12.5, mice exhibit a thickening of the forebrain neuroepithelium wall

abnormal neural tube closure ( J:136534 )

abnormal brain morphology ( J:136534 )

• at E12.5, mice exhibit degeneration of brain tissue

abnormal medulla oblongata morphology ( J:136534 )

abnormal forebrain morphology ( J:136534 )

• at E12.5, mice exhibit a thickening of the forebrain neuroepithelium wall

abnormal diencephalon morphology ( J:136534 )

exencephaly ( J:136534 )

• mice exhibit exencephaly of the midbrain due to over proliferation of neural tissue and evertion of cranial neural folds

abnormal cranial ganglia morphology ( J:136534 )

• hyperplastic at E12.5

abnormal trigeminal ganglion morphology ( J:136534 )

• hyperplastic at E12.5

abnormal vestibular ganglion morphology ( J:136534 )

• hyperplastic at E12.5

increased embryonic neuroepithelial cell proliferation ( J:136534 )

• at E12.5, an increased proliferation rate is noted in the forebrain neuroepithelium, as evidenced by the number of Ki-67-positive nuclei

• however, the proliferation rate of the hindbrain neural tube is normal

• the midbrain neuroepithelium continues to proliferate in exencephalic embryos and becomes a large convoluted mass of brain tissue protruding from the head

craniofacial

small frontal bone ( J:136534 )

absent interparietal bone ( J:136534 )

absent supraoccipital bone ( J:136534 )

small parietal bone ( J:136534 )

small alisphenoid bone ( J:136534 )

small temporal bone squamous part ( J:136534 )

• reduced in size

absent neurocranium ( J:136534 )

• absent at E14.5

acrania ( J:136534 )

• at E12.5, mice exhibit acrania

skeleton

small frontal bone ( J:136534 )

absent interparietal bone ( J:136534 )

absent supraoccipital bone ( J:136534 )

small parietal bone ( J:136534 )

small alisphenoid bone ( J:136534 )

small temporal bone squamous part ( J:136534 )

• reduced in size

absent neurocranium ( J:136534 )

• absent at E14.5

acrania ( J:136534 )

• at E12.5, mice exhibit acrania

embryo

everted embryonic neuroepithelium ( J:136534 )

• cranial neural folds are everted at E12.5

increased embryonic neuroepithelium thickness ( J:136534 )

• at E12.5, mice exhibit a thickening of the forebrain neuroepithelium wall

abnormal neural tube closure ( J:136534 )

growth/size/body

small frontal bone ( J:136534 )