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Phenotypes Associated with This Genotype
Genotype
MGI:2672030
Allelic
Composition
Hic1tm1Sbb/Hic1tm1Sbb
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hic1tm1Sbb mutation (1 available); any Hic1 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous pups are stillborn

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

craniofacial
• seen in some E15.5 embryos, often accompanied by an absence of overlying dura mater
• variable defects are apparent by E14.5, including anophthalmia, ear position or holoprosencephaly with facial midline defects in more extreme cases
• abnormalities in the development of the secondary palate are seen, including truncation and openings to the nasal cavity
• seen in some E15.5 embryos
• seen in some E15.5 embryos
• seen in some E15.5 embryos

nervous system
• by E18.5, a profoud disruption of brain development and supporting structures is apparent
• seen in some E15.5 embryos, often accompanied by an absence of overlying dura mater
• more severe by E18.5
• observed in some embryos
• sometimes absent in E15.5 embryos, usually accompanied by acrania or exencephaly

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

hearing/vestibular/ear
• seen in some E15.5 embryos
• seen in some E15.5 embryos

limbs/digits/tail
• at E15.5, forelimbs are thinner and the elbow and patella are abnormally positioned
• at E18.5, hindlimbs are smaller and deformed

growth/size/body
• abnormalities in the development of the secondary palate are seen, including truncation and openings to the nasal cavity
• seen in some E15.5 embryos
• seen in some E15.5 embryos
• seen in some E15.5 embryos
• reduction in overall size measured by crown-rump length is apparent by E12.5
• 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
• approximately half the size of controls at E18.5

digestive/alimentary system
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/15/2022
MGI 6.22
The Jackson Laboratory