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Symbol
Name
ID
Specc1l
sperm antigen with calponin homology and coiled-coil domains 1-like
MGI:1921642
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Widow's peak
Frontal bossing
Brachycephaly
Coronal craniosynostosis
Sagittal craniosynostosis
Micrognathia
Round face
Preauricular pit
Dimple chin
Prominent forehead
Everted lower lip vermilion
Long philtrum
Thin upper lip vermilion
Cleft upper lip
Thin vermilion border
Cleft palate
Advanced eruption of teeth
Natal tooth
Dental crowding
Orofacial cleft
Anteverted nares
Depressed nasal bridge
Prominent nasal bridge
Wide nasal bridge
Short nose
Highly arched eyebrow
Thick eyebrow
Downslanted palpebral fissures
Upslanted palpebral fissure
Tessier number 4 facial cleft
Disease(s) Associated with SPECC1L
oblique facial clefting 1
Teebi hypertelorism syndrome 1

Mouse Phenotypes
abnormal craniofacial morphology
abnormal secondary palate development
delayed palatal shelf elevation
abnormal oral cavity morphology
abnormal palatal rugae morphology
cleft palate
Availability Mouse Genotype
Specc1lem2Kumc/Specc1lem2Kumc
Specc1lem3Kumc/Specc1lem3Kumc
Specc1lem4Kumc/Specc1lem4Kumc
Specc1lem1Kumc/Specc1ltm1Kumc
Specc1lem3Kumc/Specc1l+
Specc1lem4Kumc/Specc1l+
Specc1lGt(DTM096)Byg/Specc1l+
Specc1lGt(RRH048)Byg/Specc1l+

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