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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Specc1lGt(RRH048)Byg
gene trap RRH048, BayGenomics
MGI:4128888
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Specc1lGt(RRH048)Byg/Specc1lGt(RRH048)Byg involves: 129P2/OlaHsd * C57BL/6 MGI:6158522
ht2
 		Specc1lGt(RRH048)Byg/Specc1l+ involves: 129P2/OlaHsd * C57BL/6 MGI:6158524
ht3
 		Specc1lGt(DTM096)Byg/Specc1lGt(RRH048)Byg involves: 129P2/OlaHsd * C57BL/6 MGI:6158520


Genotype
MGI:6158522
hm1
Allelic
Composition		 Specc1lGt(RRH048)Byg/Specc1lGt(RRH048)Byg
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Specc1lGt(RRH048)Byg mutation (0 available); any Specc1l mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
increased apoptosis ( J:250140 )
• in E9.5 embryos
abnormal cranial neural crest cell migration ( J:250140 )
• fail to migrate, remaining in neural folds at E10.5
abnormal neural crest cell delamination ( J:250140 )
• cranial neural crest cells (CNCCs) remain in neural folds at E10.5

embryo
abnormal cranial neural crest cell migration ( J:250140 )
• fail to migrate, remaining in neural folds at E10.5
abnormal neural crest cell delamination ( J:250140 )
• cranial neural crest cells (CNCCs) remain in neural folds at E10.5
abnormal neural tube closure ( J:250140 )
• mostly failure of anterior (rostral) side, sometimes posterior (caudal)

mortality/aging
embryonic lethality, complete penetrance ( J:250140 )
• most embryos die by E10.5
• no mice are born

nervous system
abnormal neural tube closure ( J:250140 )
• mostly failure of anterior (rostral) side, sometimes posterior (caudal)




Genotype
MGI:6158524
ht2
Allelic
Composition		 Specc1lGt(RRH048)Byg/Specc1l+
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Specc1lGt(RRH048)Byg mutation (0 available); any Specc1l mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
abnormal craniofacial morphology ( J:250140 )
• in some of mice that die perinatally

mortality/aging
prenatal lethality ( J:250140 )
• mice born at lower than expected Mendelian ratio




Genotype
MGI:6158520
ht3
Allelic
Composition		 Specc1lGt(DTM096)Byg/Specc1lGt(RRH048)Byg
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Specc1lGt(DTM096)Byg mutation (0 available); any Specc1l mutation (51 available)
Specc1lGt(RRH048)Byg mutation (0 available); any Specc1l mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
increased apoptosis ( J:250140 )
• in E9.5 embryos
abnormal cranial neural crest cell migration ( J:250140 )
• fail to migrate, remaining in neural folds at E10.5
abnormal neural crest cell delamination ( J:250140 )
• cranial neural crest cells (CNCCs) remain in neural folds at E10.5

embryo
abnormal cranial neural crest cell migration ( J:250140 )
• fail to migrate, remaining in neural folds at E10.5
abnormal neural crest cell delamination ( J:250140 )
• cranial neural crest cells (CNCCs) remain in neural folds at E10.5
abnormal neural tube closure ( J:250140 )
• mostly failure of anterior (rostral) side, sometimes posterior (caudal)

mortality/aging
embryonic lethality, complete penetrance ( J:250140 )
• most embryos die by E10.5
• no mice are born

nervous system
abnormal neural tube closure ( J:250140 )
• mostly failure of anterior (rostral) side, sometimes posterior (caudal)




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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory