Phenotypes associated with this allele

• Allele Symbol: Sulf1^tm1Clrm
• Allele Name: targeted mutation 1, Catherine L R Merry
• Allele ID: MGI:3699620
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sulf1^tm1Clrm/Sulf1^tm1Clrm	involves: 129S2/SvPas * C57BL/6	MGI:3700702
cx2	Sulf1^tm1Clrm/Sulf1^tm1Clrm Sulf2^tm1Clrm/Sulf2^tm1Clrm	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:3812209
cx3	Sulf1^tm1Clrm/Sulf1^tm1Clrm Sulf2^tm1Clrm/Sulf2^tm1Clrm	involves: 129S2/SvPas * C57BL/6	MGI:3700704

Genotype
MGI:3700702

hm1

• Allelic Composition: Sulf1^tm1Clrm/Sulf1^tm1Clrm
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

mortality/aging

premature death ( J:116527 )

• mortality in the first month of life is slightly but consistently increased

cellular

increased fibroblast proliferation ( J:116527 )

• in primary MEFs in response to mitogenic stimulation

Genotype
MGI:3812209

cx2

• Allelic Composition: Sulf1^tm1Clrm/Sulf1^tm1Clrm; Sulf2^tm1Clrm/Sulf2^tm1Clrm
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

skeleton

abnormal basisphenoid bone morphology ( J:130163 )

• all mice exhibit incomplete closure of the basisphenoid bone

short radius ( J:130163 )

• at P0, the length of the radius is decreased 91% of wild-type

abnormal sternum morphology ( J:130163 )

sternebra fusion ( J:130163 )

• at P0/P1, all exhibit sternebrae fusion with 29% exhibiting fusion between the manubrium and 2 or 4 sternebrae

• all mice exhibit fusion of sternebra 3 and 4 and 40% of mice exhibit partial fusion of sternebra 2 and 3

short sternum ( J:130163 )

• at P0, sternum length is decreased 84% of wild-type

abnormal vertebral column morphology ( J:130163 )

caudal vertebral fusion ( J:130163 )

• after P21, 80% of mice exhibit calcified fusion of up to 7 distal tail vertebrae

thoracic vertebral fusion ( J:130163 )

• at P0/P1, 50% of mice exhibit fusions in up to 12 vertebrae including some in the thoracic region

abnormal cervical vertebrae morphology ( J:130163 )

• 11 of 20 mice exhibit dorsally malformed second cervical vertebra

lumbar vertebral fusion ( J:130163 )

• at P0/P1, 50% of mice exhibit fusions in up to 12 vertebrae including some in the thoracic region

sacral vertebral fusion ( J:130163 )

• at P0/P1, 50% of mice exhibit fusions in up to 12 vertebrae including some in the thoracic region

split vertebrae ( J:130163 )

• at P21, 100% of mice exhibit split dorsal vertebrae compared to 22% of wild-type mice with 80% of mice exhibiting involvement of 2 to 6 vertebrae

limbs/digits/tail

short radius ( J:130163 )

• at P0, the length of the radius is decreased 91% of wild-type

caudal vertebral fusion ( J:130163 )

• after P21, 80% of mice exhibit calcified fusion of up to 7 distal tail vertebrae

craniofacial

abnormal basisphenoid bone morphology ( J:130163 )

• all mice exhibit incomplete closure of the basisphenoid bone

Genotype
MGI:3700704

cx3

• Allelic Composition: Sulf1^tm1Clrm/Sulf1^tm1Clrm; Sulf2^tm1Clrm/Sulf2^tm1Clrm
• Genetic Background: involves: 129S2/SvPas * C57BL/6

mortality/aging

premature death ( J:116527 )

• very short life span

reproductive system

decreased litter size ( J:116527 )

• the few fertile adults obtained produce litters that are about 2-fold smaller than controls

growth/size/body

decreased body weight ( J:116527 )

• obvious reduction in body mass

cellular

abnormal cell physiology ( J:116527 )

• unable to keep primary MEFs alive in culture for very long