Phenotype: abnormal snout morphology

Definition any structural anomaly of the anterior facial part of the face or muzzle containing the oral and nasal regions

Synonyms
  • abnormal nose shape
  • abnormal nose shape
  • snout abnormalities
  • snout abnormalities
  • abnormal snout
  • snout dysplasia
  • abnormal snout shape
  • snout shape abnormalities
  • abnormal muzzle morphology
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Related
Synonyms
  • Abnormal nasal morphology
  • Abnormal nasal morphology
  • Anteverted nares
  • Anteverted nares
  • Aplasia of the nose
  • Aplasia/Hypoplasia involving the nose
  • Aplasia/Hypoplasia of the nasal bone
  • Aplasia/Hypoplasia of the nasal septum
  • Bifid nose
  • Bony paranasal bossing
  • Broad nasal tip
  • Bulbous nose
  • Depressed nasal bridge
  • Fullness of paranasal tissue
  • Hypoplasia of the nasal bone
  • Hypoplastic nasal bridge
  • Hypoplastic nasal tip
  • Long nose
  • Midface retrusion
  • Midline defect of the nose
  • Midline nasal groove
  • Narrow nasal bridge
  • Narrow nose
  • Pear-shaped nose
  • Proboscis
  • Prominent nasal bridge
  • Prominent nose
  • Pyriform aperture stenosis
  • Short nasal bridge
  • Short nose
  • Slender nose
  • Thin anteverted nares
  • Underdeveloped nasal alae
  • Wide nasal bridge
  • Wide nose
  • abnormal nasal bone morphology
  • abnormal nasal bridge morphology
  • abnormal snout skin morphology
  • absent nasal bone
  • absent snout
  • asymmetric snout
  • bifid nose
  • broad nasal bone
  • broad nasal bridge
  • broad snout
  • bushy muzzle
  • depressed nasal bridge
  • downturned snout
  • enlarged nasal bone
  • flattened snout
  • long snout
  • midface hypoplasia
  • midface retrusion
  • narrow snout
  • nasal bone hyperplasia
  • nasal bone hypoplasia
  • pointed snout
  • proboscis
  • prominent nasal bridge
  • round snout
  • scaly muzzle
  • short nasal bone
  • short nasal bridge
  • short snout
  • small nasal bone
  • small nasal bridge
  • small snout
  • upturned snout
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MP browserMP:0000443

Phenotype associations stats

0.51% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal snout morphology (26/5056)

0.32% females (16/5025) 0.38% males (19/5034)

Gene variants with abnormal snout morphology

Total number of significant genotype-phenotype associations: 36

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Erf
Erftm1.1(KOMP)Mbp
HET Female Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size UC Davis | IMPC 7.47E-16
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size WTSI | IMPC 2.01E-11
Slc25a21
Slc25a21tm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal snout morphology Dysmorphology | Snout morphology WTSI | EuroPhenome 6.07E-11
Daam2
Daam2tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 5.02E-10
Celsr1
Celsr1Scy
HET Female Male postnatal abnormal snout morphology Dysmorphology | muzzle/snout length MRC Harwell | EuroPhenome 6.48E-10
Daam2
Daam2tm1a(KOMP)Wtsi
HOM Female postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout morphology WTSI | IMPC 7.06E-10
Smoc1
Smoc1tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 1.28E-9
Ltbp1
Ltbp1tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal snout morphology Dysmorphology | Snout morphology WTSI | EuroPhenome 7.96E-9
Cyb561
Cyb561tm1b(EUCOMM)Wtsi
HOM Female postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 4.42E-8
Mef2b
Mef2btm2b(EUCOMM)Hmgu
HOM Female postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 1.05E-7
F7
F7tm1b(EUCOMM)Hmgu
HET Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 2.9E-7
Vangl2
Vangl2Lp
HET Female postnatal abnormal snout morphology Dysmorphology | muzzle/snout length MRC Harwell | EuroPhenome 5.08E-7
Hbs1l
Hbs1ltm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size WTSI | IMPC 5.86E-7
Zc3hc1
Zc3hc1tm1a(KOMP)Wtsi
HOM Female postnatal abnormal snout morphology Dysmorphology | Snout morphology WTSI | MGP 6.69E-7
Lrrk1
Lrrk1tm1b(KOMP)Wtsi
HOM Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 1.34E-6
Exoc3l2
Exoc3l2tm1a(KOMP)Wtsi
HOM Female postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout morphology WTSI | IMPC 6.65E-6
Nxn
Nxntm1b(EUCOMM)Wtsi
HET Female postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout morphology WTSI | IMPC 6.65E-6
Setd5
Setd5tm1a(EUCOMM)Wtsi
HET Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout morphology WTSI | IMPC 1.91E-5
Rhobtb3
Rhobtb3tm1a(KOMP)Wtsi
HOM Male postnatal abnormal snout morphology Dysmorphology | Snout morphology WTSI | MGP 2.25E-5
Hsp90aa1
Hsp90aa1tm1(KOMP)Wtsi
HOM Female Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout morphology WTSI | IMPC 2.31E-5
Sorl1
Sorl1tm1b(EUCOMM)Wtsi
HOM Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 2.64E-5
Rgl3
Rgl3em1(IMPC)H
HOM Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 3.94E-5
Klhdc2
Klhdc2tm1b(EUCOMM)Hmgu
HET Female postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 4.04E-5
Eps8l2
Eps8l2tm1b(EUCOMM)Wtsi
HOM Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 5.3E-5
Ide
Idetm1a(EUCOMM)Wtsi
HOM Male postnatal abnormal snout morphology Dysmorphology | Snout morphology WTSI | MGP 8.36E-5
Nsun2
Nsun2tm1a(EUCOMM)Wtsi
HOM Male postnatal abnormal snout morphology Dysmorphology | Snout morphology WTSI | MGP 8.36E-5
Aff3
Aff3tm1a(EUCOMM)Wtsi
HOM Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout morphology WTSI | IMPC 9.32E-5

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Images

  • Prmt3tm1a(EUCOMM)Wtsi
    abnormal snout morphology, abnormal head shape, HOM, Male, WTSI
  • Ltbp1tm1a(EUCOMM)Wtsi
    short snout, abnormal snout morphology, HOM, Male, WTSI
  • Ltbp1tm1a(EUCOMM)Wtsi
    short snout, abnormal snout morphology, HOM, Male, WTSI
  • Agap1tm1a(EUCOMM)Wtsi
    asymmetric snout, abnormal snout morphology, HOM, Female, WTSI
  • Agap1tm1a(EUCOMM)Wtsi
    abnormal snout morphology, upturned snout, HOM, Male, WTSI