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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ccp110tm1.2Asw
targeted mutation 1.2, Anand Swaroop
MGI:5816715
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ccp110tm1.2Asw/Ccp110tm1.2Asw involves: C57BL/6J MGI:5818169
ht2
Ccp110tm1.2Asw/Ccp110+ involves: C57BL/6J MGI:5818170


Genotype
MGI:5818169
hm1
Allelic
Composition
Ccp110tm1.2Asw/Ccp110tm1.2Asw
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccp110tm1.2Asw mutation (0 available); any Ccp110 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• pups are born at the expected Mendelian ratio but die within a few hours of birth

growth/size/body
• embryos display fusion of medial edge epithelia leading to a cleft palate at E16.5
• mice fail to develop palatal shelves
• ~30% of E14.5 embryos exhibit omphalocele
• at P0, the horizontal ribs are extremely short, resulting in a constricted thoracic cavity
• at P0, pups are smaller than heterozygous and wild-type controls
• at E14.5, embryos are smaller than normal

limbs/digits/tail
• at P0, forelimb phalangeal bones show reduced mineralization
• ~30% of pups exhibit polydactyly
• skeletal staining revealed preaxial polydactyly in hind limbs
• at P0, metatarsal bones show reduced mineralization

embryo
• at E11.5, Shh staining is impaired and embryos show mild changes in the dorsoventral patterning of the neural tube
• at E11.5, Shh staining is impaired and embryos show mild changes in the dorsoventral patterning of the neural tube
• at E11.5, cilia number is reduced in the embryonic neural tube
• at E11.5, Shh staining is absent in the floor plate while FoxA2 expression is reduced in the ventral floor plate

craniofacial
• at P0, the tympanic part of the temporal bone displays reduced mineralization
• embryos display fusion of medial edge epithelia leading to a cleft palate at E16.5
• mice fail to develop palatal shelves

cardiovascular system
• at P0, pups show severe malformation of the heart, including inversion of major blood vessels (truncus arteriosus) and ventricular septum defect

skeleton
• at P0, pups exhibit severe and fully penetrant skeletal defects
• at P0, the tympanic part of the temporal bone displays reduced mineralization
• at P0, forelimb phalangeal bones show reduced mineralization
• at P0, metatarsal bones show reduced mineralization
• at P0, pups exhibit sternebra fusion, ranging from fusion of all four sternebrae to only two
• at P0, the horizontal ribs are extremely short
• at P0, the rib cage is shorter than normal
• at P0, pups show an increase in cartilage at the expense of bone
• at P0, pups show reduced mineralization in the tympanic bone and phalangeal and metatarsal bones

nervous system
• at E11.5, Shh staining is impaired and embryos show mild changes in the dorsoventral patterning of the neural tube
• at E11.5, cilia number is reduced in the embryonic neural tube
• at E11.5, Shh staining is absent in the floor plate while FoxA2 expression is reduced in the ventral floor plate
• at P0, the pinwheel architecture of the ventricular surface is disrupted in neurogenic regions, suggesting abnormal neurogenesis due to reduced cilia number
• at P0, an increase of aberrant mitotic cells is observed in brain ependymal epithelial cells, unlike in wild-type controls (~3% of metaphase nuclei versus 0%, respectively)
• among mitotic cells in ependymal epithelia, 10% show bipolar spindles and 45% show aberrant multipolar spindles, indicating supernumerary centrosomes and aneuploidy
• at P0, less than 10% of ependymal epithelial cells are ciliated in the lining of lateral ventricles

cellular
• ~90% of serum-starved mouse embryonic fibroblasts (MEFs) derived from E12.5 embryos fail to develop cilia, unlike wild-type MEFs
• MEFs show an increase in aneuploidy (to 40%) relative to wild-type cells, confirming defects in G2/M phase
• DNA content analysis revealed that MEFs fail to return to normal cell cycle within 24 h of nocodazole release and instead show accumulation of polyploid cells and appear to die, probably due to DNA damage, polyploidy and failure to segregate their centrioles
• only ~10% of MEFs derived from E12.5 embryos develop cilia upon serum starvation
• MEFs exhibit mislocalization of subdistal appendage (SDA) and transition zone components in the basal body, abnormal distribution of Rab11+ recycling endosomes, aberrant ciliary vesicle docking, and altered kinetics of microtubule array assembly
• TEM analysis of basal bodies revealed that, in most MEFs, the mother centriole (MC) lacks SDAs and fails to extend a ciliary axoneme
• less than 10% of MEFs exhibit ciliary vesicle docking; among the few MCs that are docked to a vesicle, none show an extended transition zone into the ciliary vesicle
• at P0, less than 10% of ependymal epithelial cells are ciliated in the lining of lateral ventricles
• at E11.5, cilia number is reduced in the embryonic neural tube
• at P0, cilia number is reduced in the kidney collecting duct
• MEFs show a drastic reduction in the percentage of G1/S phase cells and a 28% increase in cells at the G2/M phase relative to wild-type MEFs
• among mitotic cells in ependymal epithelia, 10% show bipolar spindles and 45% show aberrant multipolar spindles, indicating supernumerary centrosomes and aneuploidy
• among mitotic cells in serum-starved MEFs, 17% show bipolar spindles and ~80% show aberrant multipolar spindles; in addition, cells with supernumerary, unseparated centrosomes are often seen in the center of the cell, leading to complete failure of mitotic spindle formation
• at P0, an increase of aberrant mitotic cells is observed in brain ependymal epithelial cells, unlike in wild-type controls (~3% of metaphase nuclei versus 0%, respectively)
• MEFs show a 28% increase in cells at the G2/M phase relative to wild-type MEFs
• ~2% of serum-starved MEFs are mitotic versus 0% in wild-type cells
• most of the polyploid cells observed in MEFs exhibit lagging chromosomes, indicating chromosome breakage

renal/urinary system
• at P0, cilia number is reduced in the kidney collecting duct

vision/eye
• colobomas are occasionally observed

digestive/alimentary system
• embryos display fusion of medial edge epithelia leading to a cleft palate at E16.5
• mice fail to develop palatal shelves




Genotype
MGI:5818170
ht2
Allelic
Composition
Ccp110tm1.2Asw/Ccp110+
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccp110tm1.2Asw mutation (0 available); any Ccp110 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• MEFs show an increase in G1 phase cells at the expense of the G2/M phase





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
01/14/2020
MGI 6.14
The Jackson Laboratory