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Phenotypes Associated with This Genotype
Genotype
MGI:5693602
Allelic
Composition
Icktm1a(KOMP)Mbp/Icktm1a(KOMP)Mbp
Genetic
Background
C57BL/6N-Icktm1a(KOMP)Mbp
Cell Lines DEPD00524_1_A09
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Icktm1a(KOMP)Mbp mutation (2 available); any Ick mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Endocrine-cerebro-osteodysplasia syndrome-like features in Icktm1a(KOMP)Mbp/Icktm1a(KOMP)Mbp mice

mortality/aging
• homozygotes generally show embryonic lethality at late stages of gestation with unknown cause

growth/size/body
• at E15.5, mutant embryos show cleft palates in the roof of the oral cavity
• at E15.5, mutant tongues are malformed
• at E15.5, mutant tongues are smaller than wild type

homeostasis/metabolism
• at E15.5, mutant embryos exhibit extensive edema at the head and back

limbs/digits/tail
• at E15.5, mutant forelimbs exhibit polydactyly
• mutant embryos exhibit deviated ulnar formation
• at E18.5, alcian blue/alizarin red staining revealed delayed ossification in the digits
• mutant embryos exhibit elongated primary cilia and reduced Shh signaling during limb digit patterning
• at E18.5

skeleton
• at E18.5, mutant long bones are severely distorted and shortened
• mutant embryos exhibit deviated ulnar formation
• mutant embryos show delayed skeletal development
• at E18.5, mutant embryos exhibit reduced bone mineralization
• at E18.5, alcian blue/alizarin red staining revealed delayed ossification in the digits

nervous system
N
• at E10.5, homozygotes show normal ventral neural tube patterning, as determined by Shh-regulated neuronal cell identity markers
• at E15.5, mutant embryos display severely dilated ventricles in the developing telencephalon

digestive/alimentary system
• at E15.5, mutant embryos show cleft palates in the roof of the oral cavity
• at E15.5, mutant tongues are malformed
• at E15.5, mutant tongues are smaller than wild type

craniofacial
• at E15.5, mutant embryos show cleft palates in the roof of the oral cavity
• at E15.5, mutant tongues are malformed
• at E15.5, mutant tongues are smaller than wild type

renal/urinary system
• at E16.5, mutant kidneys show cyst-like tubule expansion

cellular
• at E11.5, primary cilia in mutant limb buds are 2.5-fold longer than those in wild type limb buds
• scanning EM confirmed that primary cilia in the mutant limb ectoderm are significantly longer relative to wild-type controls
• however, transmission EM showed normal primary cilia ultrastructure in the limb mesenchyme at the level of basal body or axoneme
• no defects in ciliary formation are observed in the spinal neural tube at E10.5

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
endocrine-cerebro-osteodysplasia syndrome DOID:0060641 OMIM:612651
J:211652


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/12/2019
MGI 6.13
The Jackson Laboratory