Phenotypes associated with this allele

• Allele Symbol: Sox6^tm1Vlf
• Allele Name: targeted mutation 1, Veronique Lefebvre
• Allele ID: MGI:2447148
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sox6^tm1Vlf/Sox6^tm1Vlf	involves: 129S7/SvEvBrd * C57BL/6	MGI:2653475
cn2	Sox5^tm1Vlf/Sox5^tm1Vlf Sox6^tm1Vlf/Sox6^tm2.1Vlf Tg(Col2a1-cre)1Bhr/0	involves: 129/Sv * 129S7/SvEvBrd * C57BL/6 * SJL	MGI:3641207
cx3	Sox5^tm1Vlf/Sox5^tm1Vlf Sox6^tm1Vlf/Sox6^tm1Vlf	involves: 129S7/SvEvBrd * C57BL/6	MGI:2653476
cx4	Sox5^tm1Vlf/Sox5^+ Sox6^tm1Vlf/Sox6^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3029222

Genotype
MGI:2653475

hm1

• Allelic Composition: Sox6^tm1Vlf/Sox6^tm1Vlf
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, incomplete penetrance ( J:80666 )

• incomplete penetrance; most animals die after birth due to respiratory failure

postnatal lethality, complete penetrance ( J:80666 )

• animals surviving after birth died within two weeks

growth/size/body

decreased body size ( J:80666 )

• severe, noted in animals surviving after birth

respiratory system

respiratory distress ( J:80666 )

• evident at birth

respiratory failure ( J:80666 )

• failure to breathe

Genotype
MGI:3641207

cn2

• Allelic Composition: Sox5^tm1Vlf/Sox5^tm1Vlf; Sox6^tm1Vlf/Sox6^tm2.1Vlf; Tg(Col2a1-cre)1Bhr/0
• Genetic Background: involves: 129/Sv * 129S7/SvEvBrd * C57BL/6 * SJL

skeleton

abnormal cartilage development ( J:110147 )

• poorly developed cartilage similar to double homozygous mice

Genotype
MGI:2653476

cx3

• Allelic Composition: Sox5^tm1Vlf/Sox5^tm1Vlf; Sox6^tm1Vlf/Sox6^tm1Vlf
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

short snout ( J:80666 )

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

short limbs ( J:80666 )

short tail ( J:80666 )

skeleton

abnormal thoracic cage morphology ( J:80666 )

• incomplete thoracic cage

short vertebral column ( J:80666 )

• short vertebral column

abnormal cartilage morphology ( J:80666 )

abnormal chondrocyte morphology ( J:80666 )

• cells develop normally to the prechondrocyte stage, but fail to differentiate into mature chondroblasts

absent cartilage ( J:80666 )

chondrodystrophy ( J:80666 )

Genotype
MGI:3029222

cx4

• Allelic Composition: Sox5^tm1Vlf/Sox5⁺; Sox6^tm1Vlf/Sox6⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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