Phenotypes Associated with This Genotype

Genotype
MGI:4822576

• Allelic Composition: In(2a;Itch)18H/In(2a;Itch)18H
• Genetic Background: involves: 101/H * C3H/HeH

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

excessive scratching ( J:24934 )

pigmentation

darkened coat color ( J:163587 , J:24934 )

• darker than the commonly known pigmentation umbrous (J:163587)

abnormal pinna hair pigmentation ( J:163587 )

• hair is black

digestive/alimentary system

abnormal stomach glandular epithelium morphology ( J:24934 )

stomach epithelial hyperplasia ( J:24934 )

immune system

immune system phenotype ( J:205692 )

N • activated T cells exhibit normal IL2 production

abnormal alveolar macrophage morphology ( J:24934 )

• large and often multinucleated

• cytoplasm appears laminated, infrequently containing large crystals

increased spleen red pulp amount ( J:24934 )

• erythroid progenitor cells predominate

lymph node hyperplasia ( J:24934 )

• includes hyperplasia of follicles and distention of medullary sinusoids with plasma cells

chronic inflammation ( J:24934 )

• of the skin, especially the ears

• presumably due to scratching

increased inflammatory response ( J:45910 )

• see Itch^a-18H

lung inflammation ( J:24934 )

interstitial pneumonia ( J:24934 )

integument

darkened coat color ( J:163587 , J:24934 )

• darker than the commonly known pigmentation umbrous (J:163587)

abnormal pinna hair pigmentation ( J:163587 )

• hair is black

epidermal hyperplasia ( J:24934 )

• especially the ears

skin lesions ( J:24934 )

hematopoietic system

abnormal alveolar macrophage morphology ( J:24934 )

• large and often multinucleated

• cytoplasm appears laminated, infrequently containing large crystals

increased spleen red pulp amount ( J:24934 )

• erythroid progenitor cells predominate

homeostasis/metabolism

hypoxia ( J:24934 )

• associated with pulmonary chronic interstitial inflammation and alveolar proteinosis

pulmonary alveolar proteinosis ( J:24934 )

mortality/aging

premature death ( J:24934 )

• severe immune disease results in death between 4 and 6 months of age attributed to hypoxia

respiratory system

abnormal alveolar macrophage morphology ( J:24934 )

• large and often multinucleated

• cytoplasm appears laminated, infrequently containing large crystals

pulmonary alveolar proteinosis ( J:24934 )

lung inflammation ( J:24934 )

interstitial pneumonia ( J:24934 )

abnormal pulmonary alveolus epithelial cell morphology ( J:24934 )

• a variable minimal infiltrate of neutrophils is seen

abnormal type II pneumocyte morphology ( J:24934 )

• many line alveoli and are large containing clear cytoplasmic vacuoles

abnormal lung interstitium morphology ( J:24934 )

pulmonary interstitial fibrosis ( J:24934 )