Phenotypes associated with this allele

• Allele Symbol: Tmem94^em1Mcvm
• Allele Name: endonuclease-mediated mutation 1, May Christine V Malicdan
• Allele ID: MGI:6358488
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tmem94^em1Mcvm/Tmem94^em1Mcvm	C57BL/6-Tmem94^em1Mcvm	MGI:6358490

Genotype
MGI:6358490

hm1

• Allelic Composition: Tmem94^em1Mcvm/Tmem94^em1Mcvm
• Genetic Background: C57BL/6-Tmem94^em1Mcvm

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

mortality/aging

neonatal lethality, complete penetrance ( J:269160 )

• all mutants are dead by P1 and about 20% homozygotes are identified at E18.5

respiratory system

short nasal bone ( J:269160 )

growth/size/body

abnormal facial morphology ( J:269160 )

• dysmorphic facies at E18.5

short nasal bone ( J:269160 )

round head ( J:269160 )

• round head at E18.5

decreased fetal size ( J:269160 )

• body size is decreased at E15.5 and 18.5

fetal growth retardation ( J:269160 )

• developmental delay at E18.5

cardiovascular system

abnormal cardiac muscle tissue morphology ( J:269160 )

• disarray of heart muscle fibers at the heart wall and interventricular septum at E18.5

abnormal heart development ( J:269160 )

• mutants show poorly developed heart chambers at E18.5

abnormal heart atrium auricular region morphology ( J:269160 )

• hearts show poorly organized auricles at E18.5

globular heart ( J:269160 )

• small rounded heart at E18.5

small heart ( J:269160 )

• small rounded heart at E18.5

abnormal heart ventricle morphology ( J:269160 )

• hearts show irregular inner ventricular surface at E18.5

internal hemorrhage ( J:269160 )

• E12.5 mutants show variable amount of hemorrhages in the frontal and hind regions of the cephalic area and hemorrhage is seen at E15.5 and E18.5

craniofacial

abnormal craniofacial bone morphology ( J:269160 )

• mutants show disrupted craniofacial bone at E18.5

abnormal facial morphology ( J:269160 )

• dysmorphic facies at E18.5

short nasal bone ( J:269160 )

round head ( J:269160 )

• round head at E18.5

muscle

abnormal cardiac muscle tissue morphology ( J:269160 )

• disarray of heart muscle fibers at the heart wall and interventricular septum at E18.5

nervous system

abnormal neuronal migration ( J:269160 )

• E18.5 mutants show fewer neurons in the cortical plate and absence of distinct subplate layer indicating defects in neuronal migration

abnormal cortical plate morphology ( J:269160 )

• E18.5 mutants show fewer neurons in the cortical plate

absent subplate ( J:269160 )

• E18.5 mutants show absence of a distinct subplate layer

abnormal neocortex morphology ( J:269160 )

• E15.5 mutants show a thin disorganized neocortex and lack distinct cortical layers

skeleton

abnormal craniofacial bone morphology ( J:269160 )

• mutants show disrupted craniofacial bone at E18.5

short nasal bone ( J:269160 )

cellular

abnormal neuronal migration ( J:269160 )

• E18.5 mutants show fewer neurons in the cortical plate and absence of distinct subplate layer indicating defects in neuronal migration