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
  • Broad flat nasal bridge
  • Broad flat nasal bridge
  • Broad nasal bridge
  • Broad nasal bridge
  • Broad nasal root
  • Broadened nasal bridge
  • Concave bridge of nose
  • Concave nasal bridge
  • Convex bridge of nose
  • Convex nasal bridge
  • Depressed bridge of nose
  • Depressed nasal bridge
  • Depressed nasal root
  • Depressed nasal root/bridge
  • Elevated nasal bridge
  • Flat bridge of nose
  • Flat nasal bridge
  • Flat nasal root
  • Flat, nasal bridge
  • Flattened nasal bridge
  • High nasal bridge
  • Increased breadth of bridge of nose
  • Increased breadth of nasal bridge
  • Increased width of bridge of nose
  • Increased width of nasal bridge
  • Low nasal bridge
  • Low nasal root
  • Nasal bridge broad
  • Nasal bridge, wide
  • Prominent bridge of nose
  • Prominent nasal bridge
  • Prominent nasal root
  • Protruding bridge of nose
  • Protruding nasal bridge
  • Retruded bridge of nose
  • Retruded nasal bridge
  • Wide bridge of nose
  • Wide nasal bridge
  • Widened nasal bridge
  • abnormal nasal bridge morphology
  • abnormal periauricular area morphology
  • abnormal periauricular region morphology
  • absence of snout
  • absent nose
  • absent snout
  • broad nasal bridge
  • broadened nasal bridge
  • bushy muzzle
  • bushy snout
  • concave bridge of nose
  • concave nasal bridge
  • convex bridge of nose
  • convex nasal bridge
  • decreased nasal bridge size
  • depressed bridge of nose
  • depressed nasal bridge
  • depressed nasal root
  • depressed nasal root/bridge
  • elevated nasal bridge
  • excessively hairy muzzle
  • excessively hairy snout
  • flat bridge of nose
  • flat nasal bridge
  • flat nasal root
  • flattened nasal bridge
  • flattened snout
  • high nasal bridge
  • hypoplastic midface
  • low nasal bridge
  • low nasal root
  • mid-face hypoplasia
  • midface hypoplasia
  • midfacial hypoplasia
  • nasal bridge malformation
  • periauricular region abnormalities
  • periauricular region malformation
  • pit in front of the ear
  • pointed snout
  • preauricular earpits
  • preauricular fistulas
  • preauricular pit
  • preauricular pits
  • preauricular sinus
  • prominent bridge of nose
  • prominent nasal bridge
  • prominent nasal root
  • protruding bridge of nose
  • protruding nasal bridge
  • reduced nasal bridge size
  • retruded bridge of nose
  • retruded nasal bridge
  • scaly muzzle
  • scaly snout
  • small nasal bridge
  • wide nasal bridge
  • widened nasal bridge
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Phenotype associations stats

0.62% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal snout morphology (24/3886)

0.41% females (16/3865) 0.39% males (15/3875)

Gene variants with abnormal snout morphology

Total number of significant genotype-phenotype associations: 32

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 7.25E-16
Slc25a21
Slc25a21tm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal snout morphology Dysmorphology | Snout morphology WTSI | EuroPhenome 3.34E-13
Ltbp1
Ltbp1tm1a(EUCOMM)Wtsi
HOM Female Male postnatal abnormal snout morphology Dysmorphology | Snout morphology WTSI | EuroPhenome 3.25E-12
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size WTSI | IMPC 3.64E-11
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 6.51E-10
Daam2
Daam2tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 8.04E-10
Smoc1
Smoc1tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 1.86E-9
Zc3hc1
Zc3hc1tm1a(KOMP)Wtsi
HOM Female postnatal abnormal snout morphology Dysmorphology | Snout morphology WTSI | EuroPhenome 1.72E-8
Cyb561
Cyb561tm1b(EUCOMM)Wtsi
HOM Female postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 6.38E-8
Mef2b
Mef2btm2b(EUCOMM)Hmgu
HOM Female postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 7.56E-8
F7
F7tm1b(EUCOMM)Hmgu
HET Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 1.98E-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 postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size WTSI | IMPC 8.39E-7
Lrrk1
Lrrk1tm1b(KOMP)Wtsi
HOM Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 9.16E-7
Exoc3l2
Exoc3l2tm1a(KOMP)Wtsi
HOM Female postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout morphology WTSI | IMPC 6.1E-6
Nxn
Nxntm1b(EUCOMM)Wtsi
HET Female postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout morphology WTSI | IMPC 6.1E-6
Rhobtb3
Rhobtb3tm1a(KOMP)Wtsi
HOM Male postnatal abnormal snout morphology Dysmorphology | Snout morphology WTSI | EuroPhenome 6.5E-6
Hsp90aa1
Hsp90aa1tm1(KOMP)Wtsi
HOM Female postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout morphology WTSI | IMPC 2.12E-5
Miga2
Miga2tm1a(KOMP)Wtsi
HOM Male postnatal abnormal snout morphology Dysmorphology | Snout morphology WTSI | EuroPhenome 2.25E-5
Klhdc2
Klhdc2tm1b(EUCOMM)Hmgu
HET Female postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 2.56E-5
Nsun2
Nsun2tm1a(EUCOMM)Wtsi
HOM Male postnatal abnormal snout morphology Dysmorphology | Snout morphology WTSI | EuroPhenome 3.37E-5
Setd5
Setd5tm1a(EUCOMM)Wtsi
HET Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout morphology WTSI | IMPC 3.49E-5
Irx3
Irx3em3H
HOM Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 7.47E-5
Sorl1
Sorl1tm1b(EUCOMM)Wtsi
HOM Male postnatal abnormal snout morphology Combined SHIRPA and Dysmorphology | Snout size MRC Harwell | IMPC 9.65E-5

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Images

  • Akr1c20tm1a(KOMP)Wtsi
    HEAD, upturned snout, abnormal snout morphology, abnormal snout morphology, SNOUT, HOM, Female, WTSI
  • Ltbp1tm1a(EUCOMM)Wtsi
    short snout, abnormal snout morphology, HOM, Male, WTSI
  • Ltbp1tm1a(EUCOMM)Wtsi
    short snout, abnormal snout morphology, HOM, Male, WTSI
  • Prmt3tm1a(EUCOMM)Wtsi
    abnormal snout morphology, abnormal head shape, HOM, Male, WTSI
  • Agap1tm1a(EUCOMM)Wtsi
    asymmetric snout, abnormal snout morphology, HOM, Female, WTSI