Phenotypes Associated with This Genotype

Genotype
MGI:2672030

• Allelic Composition: Hic1^tm1Sbb/Hic1^tm1Sbb
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

perinatal lethality, complete penetrance ( J:60589 )

• homozygous pups are stillborn

embryo

decreased embryo size ( J:60589 )

• reduction in overall size measured by crown-rump length is apparent by E12.5

craniofacial

acrania ( J:60589 )

• seen in some E15.5 embryos, often accompanied by an absence of overlying dura mater

abnormal craniofacial development ( J:60589 )

• variable defects are apparent by E14.5, including anophthalmia, ear position or holoprosencephaly with facial midline defects in more extreme cases

abnormal palate morphology ( J:60589 )

• abnormalities in the development of the secondary palate are seen, including truncation and openings to the nasal cavity

short snout ( J:60589 )

• seen in some E15.5 embryos

lowered ear position ( J:60589 )

• seen in some E15.5 embryos

small ears ( J:60589 )

• seen in some E15.5 embryos

nervous system

abnormal brain development ( J:60589 )

• by E18.5, a profoud disruption of brain development and supporting structures is apparent

holoprosencephaly ( J:60589 )

• observed in some embryos

abnormal brain dura mater morphology ( J:60589 )

• sometimes absent in E15.5 embryos, usually accompanied by acrania or exencephaly

exencephaly ( J:60589 )

• seen in some E15.5 embryos, often accompanied by an absence of overlying dura mater

• more severe by E18.5

skeleton

acrania ( J:60589 )

• seen in some E15.5 embryos, often accompanied by an absence of overlying dura mater

hearing/vestibular/ear

lowered ear position ( J:60589 )

• seen in some E15.5 embryos

small ears ( J:60589 )

• seen in some E15.5 embryos

limbs/digits/tail

abnormal forelimb morphology ( J:60589 )

• at E15.5, forelimbs are thinner and the elbow and patella are abnormally positioned

abnormal hindlimb morphology ( J:60589 )

• at E18.5, hindlimbs are smaller and deformed

growth/size/body

abnormal palate morphology ( J:60589 )

• abnormalities in the development of the secondary palate are seen, including truncation and openings to the nasal cavity

short snout ( J:60589 )

• seen in some E15.5 embryos

lowered ear position ( J:60589 )

• seen in some E15.5 embryos

small ears ( J:60589 )

• seen in some E15.5 embryos

decreased embryo size ( J:60589 )

• reduction in overall size measured by crown-rump length is apparent by E12.5

abnormal ventral body wall morphology ( J:60589 )

• ventral body wall defects resemble umbilical hernias with loops of intestine appearing outside the body cavity; the most extreme cases include organoschesis with the tip of the liver also protruding out of the body cavity

decreased fetal size ( J:60589 )

• approximately half the size of controls at E18.5

digestive/alimentary system

abnormal palate morphology ( J:60589 )

• abnormalities in the development of the secondary palate are seen, including truncation and openings to the nasal cavity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Miller-Dieker lissencephaly syndrome		DOID:0060469	OMIM:247200	J:60589