Phenotype: abnormal lung morphology

Definition any structural anomaly of the paired lobed visceral organs of respiration in the pulmonary cavity of the thorax where aeration of the blood normally occurs

Synonyms
  • abnormal lung
  • abnormal lung
  • lung dysplasia
  • lung dysplasia
Related
Synonyms
  • MAPCAs
  • MAPCAs
  • PVC
  • PVC
  • abnormal BASCs
  • abnormal NEBs
  • abnormal air sac morphology
  • abnormal alveolar ducts morphology
  • abnormal alveolar saccule morphology
  • abnormal alveolarization
  • abnormal alveologenesis
  • abnormal alveolus formation
  • abnormal branching involved in alveolar duct morphogenesis
  • abnormal branching involved in alveolar sac morphogenesis
  • abnormal branching involved in bronchus morphogenesis
  • abnormal branching involved in lung morphogenesis
  • abnormal branching involved in preterminal bronchiole morphogenesis
  • abnormal branching involved in respiratory bronchiole morphogenesis
  • abnormal branching involved in terminal bronchiole morphogenesis
  • abnormal branching involved in trachea morphogenesis
  • abnormal bronchal morphology
  • abnormal bronchi morphology
  • abnormal bronchial epithelium morphology
  • abnormal bronchioalveolar stem cell morphology
  • abnormal bronchiole morphology
  • abnormal bronchioles morphology
  • abnormal bronchus epithelium morphology
  • abnormal bronchus morphology
  • abnormal conducting airways
  • abnormal lung alveolus development
  • abnormal lung collagen fibril morphology
  • abnormal lung epithelium morphology
  • abnormal lung interstitium morphology
  • abnormal lung lobe morphology
  • abnormal lung mesenchymal cell differentiation
  • abnormal lung mesenchymal cell proliferation
  • abnormal lung mesenchyme development
  • abnormal lung saccule morphology
  • abnormal lung vasculature morphology
  • abnormal lung-associated mesenchyme development
  • abnormal mesenchymal cell differentiation involved in lung development
  • abnormal mesenchymal cell proliferation involved in lung development
  • abnormal primary pulmonary lobule morphology
  • abnormal pulmonary acinus morphology
  • abnormal pulmonary alveolar duct morphology
  • abnormal pulmonary alveolar parenchyma morphology
  • abnormal pulmonary alveolar sac morphology
  • abnormal pulmonary alveolar system morphology
  • abnormal pulmonary alveolus epithelium morphology
  • abnormal pulmonary collagen fibril morphology
  • abnormal pulmonary elastic fiber morphology
  • abnormal pulmonary endothelial cell surface
  • abnormal pulmonary interstitium morphology
  • abnormal pulmonary mesenchymal cell differentiation
  • abnormal pulmonary mesenchymal cell proliferation
  • abnormal pulmonary mesenchyme development
  • abnormal pulmonary neuroendocrine bodies
  • abnormal pulmonary neuroendocrine body morphology
  • abnormal pulmonary neuroepithelial bodies
  • abnormal respiratory alveolar duct morphology
  • abnormal respiratory alveologenesis
  • abnormal respiratory alveolus epithelium morphology
  • abnormal respiratory conducting tube morphology
  • abnormal respiratory conducting zone
  • abnormal respiratory lobule morphology
  • abnormal respiratory passage
  • abnormal right lung accessory lobe morphology
  • abnormal right lung anterior lobe morphology
  • abnormal right lung cardiac lobe morphology
  • abnormal right lung caudal lobe morphology
  • abnormal right lung cranial lobe morphology
  • abnormal right lung inferior lobe morphology
  • abnormal right lung infracardiac lobe morphology
  • abnormal right lung medial lobe morphology
  • abnormal right lung median lobe morphology
  • abnormal right lung middle lobe morphology
  • abnormal right lung postcaval lobe morphology
  • abnormal right lung posterior lobe morphology
  • abnormal right lung superior lobe morphology
  • abnormal trachea morphology
  • absent alveolar saccule
  • absent lung saccules
  • absent right lung accessory lobe
  • absent right lung cardiac lobe
  • absent right lung infracardiac lobe
  • absent right lung median lobe
  • absent right lung postcaval lobe
  • airway malformation
  • aorta pulmonary collateral arteries
  • aorta-pulmonary collateral arteries
  • aortico-pulmonary collateral arteries
  • aorticopulmonary collateral arteries
  • aorto-pulmonary collateral arteries
  • aortopulmonary collateral artery
  • bronchal dysplasia
  • bronchi dysplasia
  • bronchial situs inversus
  • bronchiolar dysplasia
  • bronchus dysplasia
  • congested lung vasculature
  • decreased lung mesenchymal cell proliferation
  • decreased mesenchymal cell proliferation involved in lung development
  • decreased pulmonary mesenchymal cell proliferation
  • dilated conducting airways
  • dilated respiratory conducting tubes
  • enlarged conducting air spaces
  • enlarged conducting airways
  • expanded lung mesenchyme
  • fused right lung lobes
  • fusion of right lung lobes
  • hyperplastic lung epithelium
  • impaired alveolarization
  • impaired lung alveolus development
  • impaired lung lobe morphogenesis
  • impaired respiratory alveologenesis
  • increased lung mesenchymal cell proliferation
  • increased mesenchymal cell proliferation involved in lung development
  • increased pulmonary mesenchymal cell proliferation
  • lung epithelium hyperplasia
  • lung interstitium dysplasia
  • lung necrosis
  • lung situs inversus
  • lung vascular congestion
  • major aorto-pulmonary collateral arteries
  • pale lung
  • pulmonary alveolar duct dysplasia
  • pulmonary alveolar edema
  • pulmonary congestion
  • pulmonary edema
  • pulmonary epithelial necrosis
  • pulmonary interstitial fibrosis
  • pulmonary necrosis
  • pulmonary situs inversus
  • pulmonary vascular congestion
  • reduced alveolar formation
  • reduced alveolarization
  • reduced lung mesenchyme
  • reduced lung saccule size
  • right lung lobes fusion
  • small alveolar saccule
  • small lung lobe
  • small lung saccule
  • systemic-pulmonary collateral arteries
  • thick lung-associated mesenchyme
  • thick pulmonary mesenchyme
  • thickened lung mesenchyme
  • thin lung-associated mesenchyme
  • thin pulmonary mesenchyme
  • thinned lung mesenchyme
  • trachea dysplasia
  • wet lung
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Phenotype associations stats

1.39% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal lung morphology (32/2298)

0.61% females (14/2285) 0.92% males (21/2283)

Gene variants with abnormal lung morphology

Total number of significant genotype-phenotype associations: 37

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Abcb11
Abcb11tm1b(EUCOMM)Hmgu
HET Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung HMGU | IMPC 0.0
Adnp2
Adnp2em1Tcp
HOM Female postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
B3galt2
B3galt2tm1.1(KOMP)Vlcg
HET Male postnatal enlarged lung Gross Pathology and Tissue Collection | Lung UC Davis | IMPC 0.0
B3galt2
B3galt2tm1.1(KOMP)Vlcg
HET Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung UC Davis | IMPC 0.0
Bcas1
Bcas1em1Tcp
HOM Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Ccdc124
Ccdc124tm1b(KOMP)Wtsi
HOM Female Male postnatal small lung Gross Pathology and Tissue Collection | Lung MARC | IMPC 0.0
Cdkn1a
Cdkn1atm1.1(KOMP)Vlcg
HOM Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung UC Davis | IMPC 0.0
Chchd7
Chchd7em1Tcp
HOM Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Clstn3
Clstn3tm1b(EUCOMM)Hmgu
HOM Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung MRC Harwell | IMPC 0.0
Cox20
Cox20em1Tcp
HET Female postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Dagla
Daglatm1a(EUCOMM)Wtsi
HOM Male postnatal small lung Gross Pathology and Tissue Collection | Lung MARC | IMPC 0.0
Dnal1
Dnal1tm1.1(KOMP)Vlcg
HET Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Dync1li1
Dync1li1em1Tcp
HET Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Eprs
Eprstm1b(EUCOMM)Hmgu
HET Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Hectd3
Hectd3tm1(NCOM)Cmhd
HOM Female Male postnatal small lung Gross Pathology and Tissue Collection | Lung MARC | IMPC 0.0
Hgsnat
Hgsnatem1Tcp
HOM Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Hook3
Hook3tm1b(NCOM)Mfgc
HOM Female postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Ifng
Ifngtm1.1(KOMP)Vlcg
HET Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung UC Davis | IMPC 0.0
Igfbp3
Igfbp3tm1b(KOMP)Wtsi
HOM Female postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung MRC Harwell | IMPC 0.0
Kdm1a
Kdm1atm1(NCOM)Mfgc
HET Female postnatal small lung Gross Pathology and Tissue Collection | Lung MARC | IMPC 0.0
Lhcgr
Lhcgrtm1(KOMP)Vlcg
HOM Male postnatal small lung Gross Pathology and Tissue Collection | Lung MARC | IMPC 0.0
Lrrc8a
Lrrc8atm1.1(KOMP)Vlcg
HET Female postnatal enlarged lung Gross Pathology and Tissue Collection | Lung UC Davis | IMPC 0.0
Lrrc8a
Lrrc8atm1.1(KOMP)Vlcg
HET Female postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung UC Davis | IMPC 0.0
Mmachc
Mmachctm1.1(NCOM)Mfgc
HET Female Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Mpz
Mpzem1Tcp
HOM Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Nhsl1
Nhsl1tm1.1(KOMP)Vlcg
HOM Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung UC Davis | IMPC 0.0
Otub1
Otub1tm1b(EUCOMM)Hmgu
HET Female postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung MRC Harwell | IMPC 0.0
Pcsk1n
Pcsk1ntm1.1(KOMP)Vlcg
HOM Female postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung UC Davis | IMPC 0.0
Raly
Ralyem1Tcp
HOM Female postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Slc23a3
Slc23a3em1Tcp
HOM Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Thbs1
Thbs1tm1.1(KOMP)Vlcg
HOM Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung UC Davis | IMPC 0.0
Tldc1
Tldc1em2Tcp
HOM Female postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Tmem100
Tmem100tm1e.1(KOMP)Wtsi
HET Female postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0
Zfp275
Zfp275tm1.1(NCOM)Mfgc
HEM Male postnatal abnormal lung morphology Gross Pathology and Tissue Collection | Lung TCP | IMPC 0.0

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