Phenotypes associated with this allele

• Allele Symbol: Hic1^tm1Sbb
• Allele Name: targeted mutation 1, Stephen B Baylin
• Allele ID: MGI:2386879
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hic1^tm1Sbb/Hic1^tm1Sbb	involves: 129S4/SvJae * C57BL/6	MGI:2672030
ht2	Hic1^tm1Sbb/Hic1^+	involves: 129S4/SvJae * C57BL/6	MGI:2672031

Genotype
MGI:2672030

hm1

• 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

Genotype
MGI:2672031

ht2

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

neoplasm

increased metastatic potential ( J:81448 )

• lymphomas and carcinomas in heterozygous mice spread rapidly to other organs, while in a control mouse, the tumor remained localized to the lung

increased lymphoma incidence ( J:81448 )

• 33% of female heterozygotes develop lymphomas and sarcomas

• males do not develop lymphomas or sarcomas at an incidence greater than controls

increased malignant tumor incidence ( J:81448 )

• 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

increased carcinoma incidence ( J:81448 )

• 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

increased pancreatic islet cell carcinoma incidence ( J:81448 )

increased hepatocellular carcinoma incidence ( J:81448 )

increased lung adenocarcinoma incidence ( J:81448 )

increased squamous cell carcinoma incidence ( J:81448 )

• observed in the oral cavity and ear canal

increased sarcoma incidence ( J:81448 )

• 33% of female heterozygotes develop lymphomas and sarcomas

• males do not develop lymphomas or sarcomas at an incidence greater than controls

immune system

dermatitis ( J:81448 )

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

integument

dermatitis ( J:81448 )

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

liver/biliary system

increased hepatocellular carcinoma incidence ( J:81448 )

respiratory system

increased lung adenocarcinoma incidence ( J:81448 )

endocrine/exocrine glands

increased pancreatic islet cell carcinoma incidence ( J:81448 )