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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Sox5tm1Vlf
targeted mutation 1, Veronique Lefebvre
MGI:2447147
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Sox5tm1Vlf/Sox5tm1Vlf involves: 129S7/SvEvBrd * C57BL/6 MGI:2653474
cn2
 		Sox5tm1Vlf/Sox5tm1Vlf
Sox6tm1Vlf/Sox6tm2.1Vlf
Tg(Col2a1-cre)1Bhr/0 		involves: 129/Sv * 129S7/SvEvBrd * C57BL/6 * SJL MGI:3641207
cx3
 		Sox5tm1Vlf/Sox5tm1Vlf
Sox6tm1Vlf/Sox6tm1Vlf 		involves: 129S7/SvEvBrd * C57BL/6 MGI:2653476
cx4
 		Sox5tm1Vlf/Sox5+
Sox6tm1Vlf/Sox6+ 		involves: 129S7/SvEvBrd * C57BL/6 MGI:3029222


Genotype
MGI:2653474
hm1
Allelic
Composition		 Sox5tm1Vlf/Sox5tm1Vlf
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox5tm1Vlf mutation (0 available); any Sox5 mutation (45 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, complete penetrance ( J:80666 )
• mice died at birth due to respiratory distress

craniofacial
abnormal neurocranium morphology ( J:80666 )
• short chondrocranium
failure of palatal shelf elevation ( J:80666 )
• at birth, mutant palatal shelves had not elevated and remained vertical

respiratory system
respiratory distress ( J:80666 )
• evident at birth
respiratory failure ( J:80666 )
• failure to breathe

skeleton
abnormal neurocranium morphology ( J:80666 )
• short chondrocranium
abnormal sternum morphology ( J:80666 )
• short, bent inwards and ectopic mineralized intersternebrae
short ribs ( J:80666 )
• short ribs; results in a bell shaped thoracic cage
abnormal thoracic cage shape ( J:80666 )
• bell shaped thoracic cage
abnormal bone mineralization ( J:80666 )
• mineralization of the vertebral bodies, nasal and presphenoid bones was delayed

digestive/alimentary system
failure of palatal shelf elevation ( J:80666 )
• at birth, mutant palatal shelves had not elevated and remained vertical

growth/size/body
cleft secondary palate ( J:80666 )
failure of palatal shelf elevation ( J:80666 )
• at birth, mutant palatal shelves had not elevated and remained vertical
pectus excavatum ( J:80666 )
• sternum is bent inwards




Genotype
MGI:3641207
cn2
Allelic
Composition		 Sox5tm1Vlf/Sox5tm1Vlf
Sox6tm1Vlf/Sox6tm2.1Vlf
Tg(Col2a1-cre)1Bhr/0
Genetic
Background		 involves: 129/Sv * 129S7/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox5tm1Vlf mutation (0 available); any Sox5 mutation (45 available)
Sox6tm1Vlf mutation (0 available); any Sox6 mutation (60 available)
Sox6tm2.1Vlf mutation (0 available); any Sox6 mutation (60 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
skeleton
abnormal cartilage development ( J:110147 )
• poorly developed cartilage similar to double homozygous mice




Genotype
MGI:2653476
cx3
Allelic
Composition		 Sox5tm1Vlf/Sox5tm1Vlf
Sox6tm1Vlf/Sox6tm1Vlf
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox5tm1Vlf mutation (0 available); any Sox5 mutation (45 available)
Sox6tm1Vlf mutation (0 available); any Sox6 mutation (60 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
lethality throughout fetal growth and development, complete penetrance ( J:80666 )
• die approximately at E16.5 from congestive heart failure

cardiovascular system
abnormal blood circulation ( J:80666 )
• accumulation of blood in liver, inferior vena cava and right atrium of the heart

craniofacial

growth/size/body
short snout ( J:80666 )
decreased body length ( J:80666 )
• short trunk
distended abdomen ( J:80666 )

homeostasis/metabolism
edema ( J:80666 )
• generalized edema noted

limbs/digits/tail

skeleton
abnormal thoracic cage morphology ( J:80666 )
• incomplete thoracic cage
short vertebral column ( J:80666 )
• short vertebral column
abnormal chondrocyte morphology ( J:80666 )
• cells develop normally to the prechondrocyte stage, but fail to differentiate into mature chondroblasts




Genotype
MGI:3029222
cx4
Allelic
Composition		 Sox5tm1Vlf/Sox5+
Sox6tm1Vlf/Sox6+
Genetic
Background		 involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox5tm1Vlf mutation (0 available); any Sox5 mutation (45 available)
Sox6tm1Vlf mutation (0 available); any Sox6 mutation (60 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
decreased body size ( J:80666 )
• slightly smaller and leaner than controls

skeleton
short sternum ( J:80666 )
• slightly shorter
abnormal bone mineralization ( J:80666 )
• sternum appeared irregularly mineralized




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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory