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Cystic Fibrosis

CFTR  -/-

 Phenotype

  • Hyperventilation

  • Surface Swimming Phenotype

  • Abdominal Swelling

  • Reduced Feed Gazing

  • Intestinal sloughing

  • Weight Loss

  • Dermatitis

Histology

  • Bronchial wall infiltration

  • Mucus plugging with eosinophils 

  • Sinus Hypoplasia

  • Chronic Inflammatory Infiltrate

  • Desquamated epithelium

  • Late stage infection disseminating from bronchia, to hepatobiliary, pancreatic and intestinal regions

  • Biliary fibrosis

CFTR Research Models

Biomarkers

  • MUC5AC

  • C-reactive protein

  • Serum amyloid A

  • Monocyte chemoattractant protein-1

  •  Interleukin 6 

  • N-terminal C natriuretic peptide

  • Granulocyte colony-stimulating factor

  • Intestinal current measurements 

Phenylketonuria

PAH  -/-, -/+

 Phenotype

  • Severe Anxiety

  • Aggressive Behaviour

  • Attention Deficit to Novel Objects

  • Hyperactive Darts

  • Episodic Tremor

  • Eczema

  • Reduced Food Gazing

  • Reduced Locomotion Activity

  • Weight Loss

Histology

  • Reduced Dopaminergic Neurons

  • Lack of Myelination

  • Microcephaly

  • Neuronal Loss

PKU Research Models

Biomarkers

  • Phe in Blood

  • Phe in Brain

  • PAH Activity

  • Dopamine

  • Serotonin

  • Norepinephrine

  • Phenylacetic

  • Phenylpyruvic

  • Phenyllactic acid

  • Arginine

  • Tyrosine

  • Carnitine

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