ENSMUSG00000037375


Mus musculus

Features
Gene ID: ENSMUSG00000037375
  
Biological name :Hhat
  
Synonyms : Hhat / Protein-cysteine N-palmitoyltransferase HHAT / Q8BMT9
  
Possible biological names infered from orthology : hedgehog acyltransferase / Q5VTY9
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: H6
Gene start: 192496711
Gene end: 192771223
  
Corresponding Affymetrix probe sets: 10361169 (MoGene1.0st)   1425636_at (Mouse Genome 430 2.0 Array)   1455962_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000141575
Ensembl peptide - ENSMUSP00000046686
Ensembl peptide - ENSMUSP00000120479
NCBI entrez gene - 226861     See in Manteia.
MGI - MGI:2444681
RefSeq - NM_144881
RefSeq - XM_011238934
RefSeq - XM_017320220
RefSeq Peptide - NP_659130
swissprot - A0A0A6YWJ4
swissprot - Q8BMT9
Ensembl - ENSMUSG00000037375
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hhatENSDARG00000074428Danio rerio
 HHATENSGALG00000009881Gallus gallus
 HHATENSG00000054392Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Hhatl / Q9D1G3 / Protein-cysteine N-palmitoyltransferase HHAT-like protein / Q9HCP6* / hedgehog acyltransferase like*ENSMUSG0000003252326


Protein motifs (from Interpro)
Interpro ID Name
 IPR004299  Membrane bound O-acyl transferase, MBOAT
 IPR032981  Protein-cysteine N-palmitoyltransferase HHAT


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007224 smoothened signaling pathway IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0018345 protein palmitoylation IEA
 biological_processGO:1903955 positive regulation of protein targeting to mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0016409 palmitoyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA


Pathways (from Reactome)
Pathway description
Hedgehog ligand biogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000074 abnormal neurocranium morphology "malformed bones of the skull enclosing the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0000102 abnormal nasal bone morphology "malformed elongated rectangular bone that forms part of the nasal bridge" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0000117 absent tooth primordium "missing the cells that will give rise to teeth" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0000118 arrest of tooth development "failure of differentiation of the teeth" [J:18378]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0000120 malocclusion "perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth" [J:61509]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0000164 abnormal cartilage development "anomalous formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Chit1tm1Eli/Chit1tm1Eli,Tg(Scgb1a1-Il13)2Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/Hhat+,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: HhatTg(TFAP2A-cre)1Will/Hhat+,Ptch1tm1Mps/Ptch1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Chit1tm1Eli/Chit1tm1Eli,Tg(Scgb1a1-Il13)2Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0000458 abnormal mandible morphology "malformation of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Chit1tm1Eli/Chit1tm1Eli,Tg(Scgb1a1-Il13)2Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0000565 oligodactyly "congenital condition in which some digits or parts of digits are missing" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Cd8atm1Mak/Cd8atm1Mak
Genetic Background: SJL.129S2(B6)-Cd8atm1Mak/Rdgz

Allelic Composition: Hhattm2Ptch/Hhattm2Ptch
Genetic Background: involves: 129P2/OlaHsd * FVB/N * various

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0000897 abnormal midbrain "malformation or malfunction associated with the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions, including eye movement and coordination of auditory and visual reflexes" [J:23882, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0000926 absent floor plate "missing ventral midline thinning of the developing neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35802]
Show

Allelic Composition: Cd8atm1Mak/Cd8atm1Mak
Genetic Background: SJL.129S2(B6)-Cd8atm1Mak/Rdgz

Allelic Composition: Hhattm2Ptch/Hhattm2Ptch
Genetic Background: involves: 129P2/OlaHsd * FVB/N * various

 MP:0000936 small telencephalic vesicles "reduced size of the paired diverticula of the telencephalon, from which the forebrain develops" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:49840]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0000939 reduced motor neuron number "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Cd8atm1Mak/Cd8atm1Mak
Genetic Background: SJL.129S2(B6)-Cd8atm1Mak/Rdgz

Allelic Composition: Hhattm2Ptch/Hhattm2Ptch
Genetic Background: involves: 129P2/OlaHsd * FVB/N * various

 MP:0001081 abnormal cranial ganglia morphology "any anomaly, deformity, or malformation of the groups of nerve cell bodies associated with the twelve cranial nerves" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:45302]
Show

Allelic Composition: Lef1tm1Hhx/Lef1tm1Hhx,Tcf7tm1Cle/Tcf7tm1Cle,Gt(ROSA)26Sortm2Sho/Gt(ROSA)26Sor+,Tg(GZMB-cre)1Jcb/0
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6 * FVB/N

 MP:0001092 abnormal trigeminal ganglion morphology "malformed group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve)" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33038]
Show

Allelic Composition: Lef1tm1Hhx/Lef1tm1Hhx,Tcf7tm1Cle/Tcf7tm1Cle,Gt(ROSA)26Sortm2Sho/Gt(ROSA)26Sor+,Tg(GZMB-cre)1Jcb/0
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6 * FVB/N

 MP:0001093 small trigeminal ganglion "reduced size of the trigeminal ganglion" [J:25565, J:17123]
Show

Allelic Composition: Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

 MP:0001146 abnormal testis morphology "anomalous structure of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Chit1tm1Eli/Chit1tm1Eli,Tg(Scgb1a1-Il13)2Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
Show

Allelic Composition: Chit1tm1Eli/Chit1tm1Eli,Tg(Scgb1a1-Il13)2Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0001300 ocular hypertelorism "increased distance between the eyes " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0001614 abnormal vasculature "anomalies in the structure of development of the network of tubes that carries blood through the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tfap2atm1Hsv/Tfap2atm2Will,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: Not Specified

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Cd8atm1Mak/Cd8atm1Mak
Genetic Background: SJL.129S2(B6)-Cd8atm1Mak/Rdgz

Allelic Composition: Hhattm2Ptch/Hhattm2Ptch
Genetic Background: involves: 129P2/OlaHsd * FVB/N * various

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
Show

Allelic Composition: Chit1tm1Eli/Chit1tm1Eli,Tg(Scgb1a1-Il13)2Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0002237 abnormal nasal cavity morphology "any structural anomaly of the portion of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0002427 dwarfism "abnormally undersized with disproportionate body parts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd8atm1Mak/Cd8atm1Mak
Genetic Background: SJL.129S2(B6)-Cd8atm1Mak/Rdgz

Allelic Composition: Hhattm2Ptch/Hhattm2Ptch
Genetic Background: involves: 129P2/OlaHsd * FVB/N * various

 MP:0002657 chondrodystrophy "abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk" [il:Ira Lu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd8atm1Mak/Cd8atm1Mak
Genetic Background: SJL.129S2(B6)-Cd8atm1Mak/Rdgz

Allelic Composition: Hhattm2Ptch/Hhattm2Ptch
Genetic Background: involves: 129P2/OlaHsd * FVB/N * various

 MP:0003104 acrania "complete or partial absence of a skull; usually associated with anencephaly" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:33716]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0003425 abnormal optic vesicle formation "anomalous formation of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94391]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0003830 abnormal testis development "abnormal morphogenesis of the male reproductive gland containing the germ cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:100020]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0004100 abnormal spinal cord interneuron morphology "malformation or absence of neurons that exclusively interact with other neurons in the spinal cord" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd8atm1Mak/Cd8atm1Mak
Genetic Background: SJL.129S2(B6)-Cd8atm1Mak/Rdgz

Allelic Composition: Hhattm2Ptch/Hhattm2Ptch
Genetic Background: involves: 129P2/OlaHsd * FVB/N * various

 MP:0004380 short frontal bone "reduced length of the bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0004383 absent interparietal bone "absence of the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0004419 absent parietal bone "absence of the curved bone forming part of the vault of the cranium" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0004443 absent supraoccipital bone "absence of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0004445 small exoccipital bone "reduced size of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0004447 small basioccipital bone "reduced size of the bone in the base of the cranium, frequently forming a part of the occipital in the adult, but usually distinct in the young" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0004471 short nasal bone "reduced length of either of two rectangular bone plates forming the bridge of the nose" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0004703 abnormal vertebral column "any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0004726 abnormal nasal capsule morphology "any structural abnormality in the cartilage around the developing nasal cavity of the embryo" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0004872 absent nasal septum "absence of the structure that separates the two nasal cavities" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0004911 absent mandibular condyloid process "absence of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0004912 absent mandibular coronoid process "absence of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0004913 absent mandibular angle "absence of the portion of the mandible where the body of the mandible (horizontal portion) and the rami (perpendicular portions) meet; these normally unite nearly at right angles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0005157 holoprosencephaly "presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83058]
Show

Allelic Composition: Cd8atm1Mak/Cd8atm1Mak
Genetic Background: SJL.129S2(B6)-Cd8atm1Mak/Rdgz

Allelic Composition: Hhattm2Ptch/Hhattm2Ptch
Genetic Background: involves: 129P2/OlaHsd * FVB/N * various

 MP:0006418 abnormal testis cord formation "any structural anomaly in the formation of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence; defective testis cord formation is most likely to reflect abnormal function of either Sertoli cells or peritubular myoid (PTM) cells which normally cooperate to deposit a layer of basal lamina that defines the edges of individual testis cords" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0008274 failure of bone ossification "failure to initiate or a block in the process of the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [GO:0001503]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0009653 abnormal palate development "abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0009845 abnormal neural crest cell morphology "any structural anomaly of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0009846 abnormal neural crest morphology 
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0009885 abnormal palatal shelf elevation "any anomaly in the process in which the palatal shelves move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue" [PMID:16680722]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0009887 abnormal palatal shelf fusion at midline "any anomaly in the process in which the palatal shelves grow toward the midline and adhere along the medial edge epithelia, forming the midline epithelial seam which disappears in later stages" [PMID:16942766]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0009904 tongue hypoplasia "underdevelopment of the tongue, usually due to a deficiency in the number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0010043 abnormal frontonasal suture morphology "any structural anomaly of the dense, fibrous connective tissue joint between the frontal and nasal bones" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0010939 abnormal mandibular prominence morphology 
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0010940 abnormal maxillary prominence morphology 
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Cd8atm1Mak/Cd8atm1Mak
Genetic Background: SJL.129S2(B6)-Cd8atm1Mak/Rdgz

Allelic Composition: Hhattm2Ptch/Hhattm2Ptch
Genetic Background: involves: 129P2/OlaHsd * FVB/N * various

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0012092 diencephalon hypoplasia "underdevelopment or decreased size, usually due an increased number of cells in the rostral portion of the brain stem" [MGI:rbabiuk]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0012247 absent cornea "absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure" [MGI:anna]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0013603 abnormal fetal Leydig cell differentiation "atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigger differentiation of steroidogenic factor 1-positive (SF1-positive) progenitor cells into FLCs via paracrine regulation; the intercellular Notch signaling pathway is also involved in FLC establishment and maintenance; the FLC population increases dramatically during embryonic development despite the fact that differentiating FLCs are mitotically inactive, suggesting that expansion of FLC populations results from differentiation of progenitor cells, rather than cell division of existing FLCs; the SF1-positive cells in gonadal primordia are the primary source of FLCs but other sources such as neighboring mesonephros, migrating neural crest cells, and cells from the coelomic epithelium or interstitium are potential contributors also; at the end of fetal life and during the first 2 postnatal weeks in rodents, FLCs are gradually replaced by adult Leydig cells (ALCs)" [PMID:23568777]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0013818 abnormal oral cavity morphology "any structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth" [UBERON:0000167]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0030200 abnormal nasal septum cartilage morphology "any structural anomaly of the hyaline cartilage of the nasal septum that is somewhat quadrilateral in shape, thicker at its margins than at its center, and completes the separation between the nasal cavities" [https://en.wikipedia.org/wiki/Septal_nasal_cartilage, MGI:anna]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0030249 small frontonasal prominence "reduced size of the unpaired embryonic process that is formed from the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout" [MGI:anna]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

 MP:0030268 agnathia "congenital, complete or partial, absence of one or both jaws; total absence of the maxilla and/or mandible is extremely rare in mammals; when agnathia occurs, it may be combined with cyclopia or synotia" [https://mdefine.org/a/agnathia-37b.html]
Show

Allelic Composition: HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic Background: Not Specified

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000002633 Shh / Q62226 / Sonic hedgehog protein Sonic hedgehog protein N-product / Q15465* / sonic hedgehog*  / reaction






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr