MAMMALIAN PHENOTYPE - ANNOTATIONS
The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term: abnormal craniofacial bone morphology
Accession: MP:0002116
browse the term
Definition: any structural anomaly of the cranial or facial bones
Synonyms: exact_synonym: cranial/facial bone dysplasia; craniofacial bone defects; skeletal: craniofacial defects
related_synonym: craniofacial bone dysplasia
alt_id: MP:0000072
xref: MGI:2173564
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Nell1
neural EGFL like 1
IMP
RGD
PMID:12235118
RGD:633405
NCBI chr 1:99,709,305...100,573,872
Ensembl chr 1:99,709,793...100,573,860
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Cftr
CF transmembrane conductance regulator
IMP
RGD
PMID:31942562
RGD:126928119
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Cftrem1Ang
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang
IMP
RGD
PMID:31942562
RGD:126928119
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Cftrem2Ang
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang
IMP
RGD
PMID:31942562
RGD:126928119
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Nfe2l2
NFE2 like bZIP transcription factor 2
IMP
RGD
PMID:27071940
RGD:12910550
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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Nfe2l2em1Kyo
nuclear factor, erythroid 2-like 2; zinc finger nuclease induced mutant 1, Kyoto University
IMP
RGD
PMID:27071940
RGD:12910550
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Nfe2l2em2Kyo
nuclear factor, erythroid 2-like 2; zinc finger nuclease induced mutant 2, Kyoto University
IMP
RGD
PMID:27071940
RGD:12910550
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Edaradd
EDAR associated via death domain
IAGP
DNA:missense mutation:exon:p.Pro153Ser(rat)
RGD
PMID:22013926
RGD:14398762
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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EdaraddswhKyo
EDAR-associated death domain;swh Kyo mutant
IAGP
DNA:missense mutation:exon:p.Pro153Ser(rat)
RGD
PMID:22013926
RGD:14398762
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Cftr
CF transmembrane conductance regulator
IMP
RGD
PMID:24608905
RGD:11566051
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Cftrem1Sage
cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage
IMP
RGD
PMID:24608905
RGD:11566051
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Csf1
colony stimulating factor 1
IAGP
RGD
PMID:12379742
RGD:628338
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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Csf1tl
colony stimulating factor 1; tooth less mutant
IAGP
RGD
PMID:12379742
RGD:628338
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Csf1r
colony stimulating factor 1 receptor
IMP
RGD
PMID:33450391
RGD:126781687
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Csf1rtm(EGFP)Tset
colony stimulating factor 1 receptor; target mutant, Tset
IMP
RGD
PMID:33450391
RGD:126781687
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Nppc
natriuretic peptide C
IMP
compared to wild type
RGD
PMID:29566041
RGD:127284867
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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Nppcem3Kyo
natriuretic peptide C; ZFN induced mutant 3, Kyo
IMP
compared to wild type
RGD
PMID:29566041
RGD:127284867
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Nppcem4Kyo
natriuretic peptide C; ZFN induced mutant 4, Kyo
IMP
compared to wild type
RGD
PMID:29566041
RGD:127284867
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Mecp2
methyl CpG binding protein 2
sexual_dimorphism
IMP
compared to female heterozygote mutant
RGD
PMID:27313794 PMID:27329765
RGD:11568037 , RGD:40924662
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Mecp2em1Sage
methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs
sexual_dimorphism
IMP
compared to female heterozygote mutant
RGD
PMID:27329765 PMID:27313794
RGD:40924662 , RGD:11568037
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Csf1r
colony stimulating factor 1 receptor
IMP
RGD
PMID:30249809
RGD:41404725
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Csf1rtm(EGFP)Tset
colony stimulating factor 1 receptor; target mutant, Tset
IMP
RGD
PMID:30249809
RGD:41404725
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Prkg2
protein kinase cGMP-dependent 2
IAGP
DNA:deletion:cds (rat)
RGD
PMID:19149413
RGD:150429793
NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888
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Pax6
paired box 6
IAGP
RGD
PMID:16795023
RGD:12790971
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pax6Sey2
paired box gene 6, small eye mutation 2
IAGP
RGD
PMID:16795023
RGD:12790971
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