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Symbol
Name
ID
Hhat
hedgehog acyltransferase
MGI:2444681
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Increased skull ossification
Microcephaly
Short phalanx of finger
Brachydactyly
Short metacarpal
Micromelia
Broad long bones
Abnormal pelvic girdle bone morphology
Abnormal shoulder morphology
Distal clavicular thinning
Bell-shaped thorax
Narrow chest
Trapezoidal vertebral body
Disease(s) Associated with HHAT
chondrodysplasia-pseudohermaphroditism syndrome

Mouse Phenotypes
abnormal cranium morphology
small basioccipital bone
absent interparietal bone
small exoccipital bone
absent supraoccipital bone
absent parietal bone
absent tooth placode
arrest of tooth development
abnormal mandible morphology
absent mandibular angle
absent mandibular condyloid process
absent mandibular coronoid process
agnathia
acrania
abnormal nasal cartilage morphology
nasal cartilage hypoplasia
abnormal vertebral column morphology
abnormal cartilage development
chondrodystrophy
failure of bone ossification
Availability Mouse Genotype
HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Hhattm1Ptch/Hhattm1Ptch
Hhattm2Ptch/Hhattm2Ptch

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory