Phenotypes associated with this allele

• Allele Symbol: Fbln1^tm1Tmpl
• Allele Name: targeted mutation 1, Rupert Timpl
• Allele ID: MGI:2384028
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fbln1^tm1Tmpl/Fbln1^tm1Tmpl	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3664024
ht2	Fbln1^Gt(XST011)Byg/Fbln1^tm1Tmpl	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3803231

Genotype
MGI:3664024

hm1

• Allelic Composition: Fbln1^tm1Tmpl/Fbln1^tm1Tmpl
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:71581 )

postnatal lethality, incomplete penetrance ( J:71581 )

• among progeny of heterozygote matings only about 2% of 4 week old mice are homozygous

• normal proportion at E18.5

• most deaths occur withing the first 24 to 48 hours of life

growth/size/body

decreased body size ( J:71581 )

• body size of newborn mice about 20% below that of littermates

decreased body weight ( J:71581 )

• weight of newborn mice about 20% below that of littermates

• mice surviving beyond 48 hours develop normally and are fertile but remain 10-30% under weight for several months before eventually attaining normal size

cardiovascular system

abnormal capillary morphology ( J:71581 )

• capillary lumina sometimes cluttered with endothelial processes

• abnormalities are corrected with age

abnormal glomerular capillary endothelium morphology ( J:71581 )

• abnormal endothelial cell layer

decreased glomerular capillary number ( J:71581 )

• reduced number of capillary loops

dilated glomerular capillary ( J:71581 )

• dilated lumen of the capillary loop

double outlet right ventricle ( J:137690 )

• Background Sensitivity: 7% of mice show double outlet right ventricle in conjunction with ventricular septal defects

atrial septal defect ( J:137690 )

• Background Sensitivity: 14% of hearts show atrial septal defects

ventricular septal defect ( J:137690 )

• always seen together with double outlet right ventricle

hemorrhage ( J:71581 )

• spontaneous bleeding starts around E12.5

• no bleeding in inner organs or abdominal cavity

• severity of bleeding increases during gestation and becomes critical perinatally

• spontaneous bleeding ends two days after birth and subcutaneous blood clears

intracranial hemorrhage ( J:71581 )

• most bleeding at E12.5 in the region of the telencephalon and beneath the spinal cord

hematopoietic system

thymus hypoplasia ( J:137690 )

decreased hematocrit ( J:71581 )

• 70% reduction in hematocrit starting around E18.5

respiratory system

abnormal lung development ( J:71581 )

• delayed

impaired lung alveolus development ( J:71581 )

• alveoli poorly expanded

abnormal lung interstitium morphology ( J:71581 )

• thickened parenchymal septa

overexpanded pulmonary alveolus ( J:71581 )

• lumen of alveoli dilated and irregular

• endothelium organization regular

abnormal breathing pattern ( J:71581 )

• only about 50% are able to start spontaneous breathing at birth

renal/urinary system

abnormal podocyte foot process morphology ( J:71581 )

• number of foot processes and their shapes are abnormal

abnormal renal glomerulus morphology ( J:71581 )

• 10-40% of kidney glomeruli are abnormal

abnormal glomerular capillary endothelium morphology ( J:71581 )

• abnormal endothelial cell layer

decreased glomerular capillary number ( J:71581 )

• reduced number of capillary loops

dilated glomerular capillary ( J:71581 )

• dilated lumen of the capillary loop

nervous system

intracranial hemorrhage ( J:71581 )

• most bleeding at E12.5 in the region of the telencephalon and beneath the spinal cord

immune system

thymus hypoplasia ( J:137690 )

integument

petechiae ( J:71581 )

• at E12.5, petechial bleeding is often seen along blood vessels under the skin

• subcutaneous blood is cleared by day 2 after birth

endocrine/exocrine glands

thymus hypoplasia ( J:137690 )

Genotype
MGI:3803231

ht2

• Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^tm1Tmpl
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

cardiovascular system

double outlet right ventricle ( J:137690 )

• Background Sensitivity: 11% of mice show double outlet right ventricle in conjunction with ventricular septal defects

overriding aortic valve ( J:137690 )

• Background Sensitivity: seen in about 22% of mice in conjunction with ventricular septal defects

atrial septal defect ( J:137690 )

• Background Sensitivity: 44% of hearts from mutant mice show atrial septal defects

ventricular septal defect ( J:137690 )

• Background Sensitivity: 22% of mice exhibit hearts with ventricular septal defects

• Background Sensitivity: 11% of mice show both double outlet right ventricle and ventricular septal defects

• Background Sensitivity: 22% of mice show both overriding aorta and ventricular septal defects