Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

PLoS Genetics

Volumn 9, Issue 8, 2013, Pages

  Miller, Kerry A ^a   Ah Cann, Casey J ^a,b   Welfare, Megan F ^a   Tan, Tiong Y ^a,c   Pope, Kate ^a   Caruana, Georgina ^d   Freckmann, Mary Louise ^e   Savarirayan, Ravi ^c   Bertram, John F ^d   Dobbie, Michael S ^f   Bateman, John F ^a,b   Farlie, Peter G ^a,b  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d MONASH UNIVERSITY   (Australia)

^e SYDNEY CHILDREN'S HOSPITAL   (Australia)

^f Biology and Environment   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DUAL SPECIFICITY PHOSPHATASE 6; F ACTIN; FIBROBLAST GROWTH FACTOR 8; MESSENGER RNA; PROTEIN PATCHED 1; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR SOX9; UVOMORULIN;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CAULI MOUSE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE MODEL; DISEASE SEVERITY; ECTODERM; EMBRYO; EXENCEPHALY; FEMALE; FINGER MALFORMATION; GENE; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HEART DISEASE; HOMOZYGOTE; HUMAN; INFANT; INTRAFLAGELLAR TRANSPORT 140 GENE; JEUNE SYNDROME; LIMB BUD; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MORPHOLOGY; MOUSE; MOUSE MUTANT; MOUSE STRAIN; MUTATIONAL ANALYSIS; NEURAL TUBE DEFECT; NEWBORN; NEWBORN MORTALITY; NONHUMAN; NUCLEOTIDE SEQUENCE; PALATE MALFORMATION; PHENOTYPE; SIGNAL TRANSDUCTION; SKELETON MALFORMATION; SOMITE; SPINAL DYSRAPHISM; SYNDROME; VALIDATION PROCESS;

ANIMALS; CARRIER PROTEINS; CELL COMMUNICATION; CELL POLARITY; CILIA; DISEASE MODELS, ANIMAL; ELLIS-VAN CREVELD SYNDROME; EMBRYONIC DEVELOPMENT; HEDGEHOG PROTEINS; HUMANS; MICE; MUTATION; SIGNAL TRANSDUCTION;

EID: 84884599111     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003746     Document Type: Article

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