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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hic1tm1Sbb
targeted mutation 1, Stephen B Baylin
MGI:2386879
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hic1tm1Sbb/Hic1tm1Sbb involves: 129S4/SvJae * C57BL/6 MGI:2672030
ht2
Hic1tm1Sbb/Hic1+ involves: 129S4/SvJae * C57BL/6 MGI:2672031


Genotype
MGI:2672030
hm1
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




Genotype
MGI:2672031
ht2
Allelic
Composition
Hic1tm1Sbb/Hic1+
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
liver/biliary system

respiratory system

endocrine/exocrine glands

neoplasm
• lymphomas and carcinomas in heterozygous mice spread rapidly to other organs, while in a control mouse, the tumor remained localized to the lung
• 33% of female heterozygotes develop lymphomas and sarcomas
• males do not develop lymphomas or sarcomas at an incidence greater than controls
• heterozygotes show a predisposition to malignant tumors after 70 weeks of age
• at 70 weeks of age the incidence is 16.4 percent and none in controls; by 100 weeks of age, 32.4 percent of mice develop tumors, and the incidence in controls is 14.3 percent
• 44% of the malignant tumors are epithelial cancers
• 22% of heterozygous males develop epithelial tumors, including squamous cells carcinomas of the oral cavity and ear canal, lung adenocarcinomas, hepatocellular carcinomas and pancreatic islet cell carcinoma; controls developed none
• female heterozygotes do not develop carcinomas at an incidence greater than controls
• observed in the oral cavity and ear canal
• 33% of female heterozygotes develop lymphomas and sarcomas
• males do not develop lymphomas or sarcomas at an incidence greater than controls

immune system
• about one quarter of heterozygous mice develop pruritic ulcerative dermatitis in the facial area

integument
• about one quarter of heterozygous mice develop pruritic ulcerative dermatitis in the facial area





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
01/24/2023
MGI 6.22
The Jackson Laboratory