Phenotypes Associated with This Genotype

Genotype
MGI:3036833

• Allelic Composition: Six3^tm1Gco/Six3^tm1Gco
• Genetic Background: involves: 129S1/Sv

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

mortality/aging

perinatal lethality, complete penetrance ( J:81797 )

• homozygotes died at birth

craniofacial

abnormal craniofacial morphology ( J:81797 )

• lacked most structures anterior to the mid brain while the remainder of the body was apparently normal

• eyes and nose missing

abnormal cranium morphology ( J:81797 )

• rostral skull and maxillofacial derivatives stunted

absent nasal placodes ( J:81797 )

• absent at E9.5

absent optic pit ( J:81797 )

• by E8-8.25, optic pits are undetectable

embryo

abnormal rostral-caudal axis patterning ( J:81797 )

• anterior patterning is affected by the 1-2 somite stage

abnormal neural tube morphology ( J:81797 )

• normal thickening in the neurectodermal border is absent

skeleton

abnormal cranium morphology ( J:81797 )

• rostral skull and maxillofacial derivatives stunted

nervous system

abnormal neural tube morphology ( J:81797 )

• normal thickening in the neurectodermal border is absent

abnormal forebrain development ( J:81797 )

• by E8-8.25, forebrain morphogenesis is abnormal

absent embryonic telencephalon ( J:81797 )

• telencephalic vesicles absent at E12.5

decreased forebrain size ( J:81797 )

• at E12.5 there was severe truncation of the forebrain

increased midbrain size ( J:81797 )

• by E8-8.25 the midbrain appears to be anteriorly expanded

vision/eye

absent optic vesicle ( J:81797 )

• absent at E12.5

anophthalmia ( J:81797 )

• at E9.5 eyes are lacking

taste/olfaction

absent nasal placodes ( J:81797 )

• absent at E9.5

respiratory system

absent nasal placodes ( J:81797 )

• absent at E9.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
holoprosencephaly 2		DOID:0110872	OMIM:157170	J:81797