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: craniofacial phenotype
Accession: MP:0005382
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Definition: the observable morphological and physiological characteristics of the face or head of a mammalian organism that are manifested through development and lifespan
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Nell1
neural EGFL like 1
IMP
RGD
PMID:12235118
RGD:633405
NCBI chr 1:108,845,462...109,709,858
Ensembl chr 1:108,845,462...109,709,858
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Lpar1
lysophosphatidic acid receptor 1
IMP
RGD
PMID:20531371
RGD:13825198
NCBI chr 5:78,024,139...78,147,071
Ensembl chr 5:78,024,139...78,142,188
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Lpar1m1Hubr
lysophosphatidic acid receptor 1; ENU induced mutant 1, Hubr
IMP
RGD
PMID:20531371
RGD:13825198
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Cftr
CF transmembrane conductance regulator
IMP
RGD
PMID:31942562
RGD:126928119
NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643
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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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Tmem67
transmembrane protein 67
IAGP
RGD
PMID:30705305
RGD:14995942
NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666
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Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:30705305
RGD:14995942
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Nfe2l2
NFE2 like bZIP transcription factor 2
IMP
RGD
PMID:27071940
RGD:12910550
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090
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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 chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361
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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 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643
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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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Pax6
paired box 6
IAGP
RGD
PMID:7981749
RGD:1601213
NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:112,590,391...112,611,763
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Pax6Sey
paired box gene 6, small eye mutation
IAGP
RGD
PMID:7981749
RGD:1601213
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Edaradd
EDAR associated via death domain
IAGP
DNA:missense mutation:exon:p.Pro153Ser(rat)
RGD
PMID:22013926
RGD:14398762
NCBI chr17:92,850,791...92,894,808
Ensembl chr17:92,831,613...92,894,361
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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 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643
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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 2:198,065,400...198,084,774
Ensembl chr 2:198,065,405...198,084,468
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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 chr18:56,834,152...56,860,804
Ensembl chr18:56,817,049...56,860,806
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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 9:94,767,986...94,772,186
Ensembl chr 9:94,767,986...94,772,186
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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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Cit
citron rho-interacting serine/threonine kinase
IAGP
RGD
PMID:10219263
RGD:13204836
NCBI chr12:46,263,881...46,425,642
Ensembl chr12:46,266,369...46,424,656
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CitfhJjlo
citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo
IAGP
RGD
PMID:10219263
RGD:13204836
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Gla
galactosidase, alpha
IMP
compared to Wild type
RGD
PMID:29979634
RGD:401976416
NCBI chr X:102,062,497...102,073,915
Ensembl chr X:102,056,718...102,073,915
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Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
IMP
compared to Wild type
RGD
PMID:29979634
RGD:401976416
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Gla
galactosidase, alpha
IMP
compared to Wild type
RGD
PMID:29979634
RGD:401976416
NCBI chr X:102,062,497...102,073,915
Ensembl chr X:102,056,718...102,073,915
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Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
IMP
compared to Wild type
RGD
PMID:29979634
RGD:401976416
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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:156,932,481...156,995,981
Ensembl chr X:156,941,234...156,943,560
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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 chr18:56,834,152...56,860,804
Ensembl chr18:56,817,049...56,860,806
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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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Slc9a6
solute carrier family 9 member A6
IMP
RGD
PMID:34928329
RGD:151664747
NCBI chr X:139,468,045...139,524,111
Ensembl chr X:139,458,127...139,524,109
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Slc9a6 em1Moro
solute carrier family 9 member A6;CRISPR/Cas9 induced mutant1, Moro
IMP
RGD
PMID:34928329
RGD:151664747
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Prkg2
protein kinase cGMP-dependent 2
IAGP
DNA:deletion:cds (rat)
RGD
PMID:19149413
RGD:150429793
NCBI chr14:10,864,020...10,972,617
Ensembl chr14:10,864,186...10,972,614
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Pax6
paired box 6
IAGP
RGD
PMID:16795023
RGD:12790971
NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:112,590,391...112,611,763
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Pax6Sey2
paired box gene 6, small eye mutation 2
IAGP
RGD
PMID:16795023
RGD:12790971
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