Ccdc40lnks
Chemically induced Allele Detail
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Symbol: |
Ccdc40lnks |
Name: |
coiled-coil domain containing 40; links |
MGI ID: |
MGI:3662904 |
Synonyms: |
Ccdc40Q792X |
Gene: |
Ccdc40 Location: Chr11:119119398-119156064 bp, + strand Genetic Position: Chr11, 83.35 cM
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Alliance: |
Ccdc40lnks page
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Allele Type: |
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Chemically induced (ENU) |
Mutation: |
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Single point mutation
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Mutation details: ENU mutagenesis induced a C-to-A change resulting in a nonsense mutation in the C-terminal coiled-coil domain. The amino acid substitution results in a stop codon in place of serine at position 792 (p.S792*).
(J:168691)
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Key: |
hm |
homozygous |
ht |
heterozygous |
tg |
involves transgenes |
√ |
phenotype observed |
cn |
conditional genotype |
cx |
complex: > 1 genome feature |
ot |
other: hemizygous, indeterminate,... |
N |
normal phenotype |
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Genotype/ Background: |
| Allelic Composition | Genetic Background | Cell Line(s) |
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Loading... | | | involves: C3H/HeJ * C57BL/6J | |
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Phenotypes: |
Affected Systems |
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cellular
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√
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abnormal motile primary cilium morphology
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√
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embryo
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√
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abnormal motile primary cilium morphology
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√
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growth/size/body
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√
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heterotaxia
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√
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left-sided isomerism
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√
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left pulmonary isomerism
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√
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lung situs inversus
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√
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situs inversus
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√
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mortality/aging
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√
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postnatal lethality, complete penetrance
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√
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nervous system
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√
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hydrocephaly
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√
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renal/urinary system
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N
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renal/urinary system phenotype
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N
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respiratory system
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√
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left pulmonary isomerism
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√
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lung situs inversus
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√
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View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Carrying any Ccdc40 Mutation: |
52 strains or lines available
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Original: |
J:168691 Becker-Heck A, et al., The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet. 2011 Jan;43(1):79-84 |
All: |
4 reference(s) |
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