Phenotypes associated with this allele

• Allele Symbol: Fbln1^{Gt(XST011)Byg}
• Allele Name: gene trap XST011, BayGenomics
• Allele ID: MGI:3802971
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fbln1^Gt(XST011)Byg/Fbln1^Gt(XST011)Byg	B6.129P2-Fbln1^Gt(XST011)Byg	MGI:3803230
hm2	Fbln1^Gt(XST011)Byg/Fbln1^Gt(XST011)Byg	involves: 129P2/OlaHsd * C57BL/6	MGI:3803229
ht3	Fbln1^Gt(XST011)Byg/Fbln1^tm1Tmpl	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3803231
cx4	Adamts9^tm1Dgen/Adamts9^tm1Dgen Fbln1^Gt(XST011)Byg/Fbln1^+	B6.129P2-Adamts9^tm1Dgen Fbln1^Gt(XST011)Byg	MGI:4418863

Genotype
MGI:3803230

hm1

• Allelic Composition: Fbln1^{Gt(XST011)Byg}/Fbln1^{Gt(XST011)Byg}
• Genetic Background: B6.129P2-Fbln1^{Gt(XST011)Byg}

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

cardiovascular system

overriding aortic valve ( J:137690 )

• Background Sensitivity: seen in 8% of mice in conjunction with ventricular septal defects

atrial septal defect ( J:137690 )

• Background Sensitivity: 23% of hearts from mutant mice show atrial septal defects

ventricular septal defect ( J:137690 )

• Background Sensitivity: 38% of hearts from mutant mice show ventricular septal defects

• Background Sensitivity: 8% of mutant mice show both overriding aora and ventricular septal defects

Genotype
MGI:3803229

hm2

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

mortality/aging

neonatal lethality, complete penetrance ( J:137690 )

• pups at birth are hemorrhagic and either dead or experiencing labored breathing

• none alive shortly after birth

cellular

increased hindbrain apoptosis ( J:137690 )

• increased apoptosis at E10.5

muscle

ventricle myocardium hypoplasia ( J:137690 )

• the compact layer of wall myocardium is thinner than normal

cardiovascular system

abnormal cardiovascular system morphology ( J:137690 )

abnormal blood vessel morphology ( J:137690 )

• fewer superficial blood vessels in the head, seen as early as E14.5 and the severity increased with gestational age

aberrant origin of the right subclavian artery ( J:137690 )

• right subclavian artery missing from its normal location in about 20% of mice

retroesophageal right subclavian artery ( J:137690 )

• one instance

abnormal common carotid artery morphology ( J:137690 )

• constrictions of the right common carotid artery were also apparent in one mutant

abnormal truncus arteriosus septation ( J:137690 )

• fails to develop

abnormal heart morphology ( J:137690 )

ventricle myocardium hypoplasia ( J:137690 )

• the compact layer of wall myocardium is thinner than normal

double outlet right ventricle ( J:137690 )

• Background Sensitivity: high incidence of double outlet right ventricle

overriding aortic valve ( J:137690 )

• Background Sensitivity: high incidence

atrial septal defect ( J:137690 )

• Background Sensitivity: 40% of hearts show atrial septal defects, included septum primum and septum secundum anomalies

ostium primum atrial septal defect ( J:137690 )

ostium secundum atrial septal defect ( J:137690 )

ventricular septal defect ( J:137690 )

• Background Sensitivity: 86% of hearts with ventricular septal defects, both muscular and membranous

perimembraneous ventricular septal defect ( J:137690 )

muscular ventricular septal defect ( J:137690 )

hemorrhage ( J:137690 )

internal hemorrhage ( J:137690 )

eye hemorrhage ( J:137690 )

• bleeding within the eyes around E14.5 becoming worse with age

• hyaloid vessels are distended

• hyaloid cavity filled with blood cells

intracerebral hemorrhage ( J:137690 )

• sometimes edema on the back of the head over the fourth ventricle

spinal hemorrhage ( J:137690 )

• blood in extravascular spaces around spinal cord at E18.5

respiratory system

abnormal nasal bone morphology ( J:137690 )

• decreased ossification

small thyroid cartilage ( J:137690 )

• reduced

small lung ( J:137690 )

• smaller than normal at E17.5

abnormal pulmonary alveolus morphology ( J:137690 )

• fewer saccules and greater cell density in the lungs

respiratory distress ( J:137690 )

• labored breathing of pups immediately after birth

endocrine/exocrine glands

thymus hypoplasia ( J:137690 )

thyroid gland hypoplasia ( J:137690 )

hematopoietic system

thymus hypoplasia ( J:137690 )

skeleton

abnormal cranium morphology ( J:137690 )

• decreased ossification of most cranial bones

• reduced size of most cranial bones

abnormal frontal bone morphology ( J:137690 )

• decreased ossification

abnormal parietal bone morphology ( J:137690 )

• decreased ossification

abnormal premaxilla morphology ( J:137690 )

• decreased ossification

micrognathia ( J:137690 )

• reduced size of mandible

abnormal nasal bone morphology ( J:137690 )

• decreased ossification

small thyroid cartilage ( J:137690 )

• reduced

hearing/vestibular/ear

abnormal otic vesicle development ( J:137690 )

• increased apoptosis at E10.5

abnormal tympanic ring morphology ( J:137690 )

• decreased ossification

nervous system

intracerebral hemorrhage ( J:137690 )

• sometimes edema on the back of the head over the fourth ventricle

spinal hemorrhage ( J:137690 )

• blood in extravascular spaces around spinal cord at E18.5

increased hindbrain apoptosis ( J:137690 )

• increased apoptosis at E10.5

abnormal rhombomere morphology ( J:137690 )

• increased apoptosis in rhombomeres 4, 6, and 7

abnormal cranial nerve morphology ( J:137690 )

abnormal glossopharyngeal nerve morphology ( J:137690 )

• interruptions in the proximal region

• reduced distal branching

abnormal vagus nerve morphology ( J:137690 )

• abnormal branching in the proximal region

• more compact and less reticulated

fusion of glossopharyngeal and vagus nerve ( J:137690 )

• abnormal mixing of the distal regions of the glossopharyngial and vagus nerves

• mixing in the epibranchial placode region

craniofacial

abnormal cranium morphology ( J:137690 )

• decreased ossification of most cranial bones

• reduced size of most cranial bones

abnormal frontal bone morphology ( J:137690 )

• decreased ossification

abnormal parietal bone morphology ( J:137690 )

• decreased ossification

abnormal premaxilla morphology ( J:137690 )

• decreased ossification

micrognathia ( J:137690 )

• reduced size of mandible

abnormal nasal bone morphology ( J:137690 )

• decreased ossification

immune system

thymus hypoplasia ( J:137690 )

embryo

abnormal rhombomere morphology ( J:137690 )

• increased apoptosis in rhombomeres 4, 6, and 7

integument

petechiae ( J:137690 )

• petechial bleeding in head and neck by E14.5 becoming worse with age

vision/eye

eye hemorrhage ( J:137690 )

• bleeding within the eyes around E14.5 becoming worse with age

• hyaloid vessels are distended

• hyaloid cavity filled with blood cells

growth/size/body

abnormal nasal bone morphology ( J:137690 )

• decreased ossification

Genotype
MGI:3803231

ht3

• 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

Genotype
MGI:4418863

cx4

• Allelic Composition: Adamts9^tm1Dgen/Adamts9^tm1Dgen; Fbln1^{Gt(XST011)Byg}/Fbln1⁺
• Genetic Background: B6.129P2-Adamts9^tm1Dgen Fbln1^{Gt(XST011)Byg}

limbs/digits/tail

syndactyly ( J:155754 )

• 100% penetrance of soft-tissue syndactyly (STS)

interdigital webbing ( J:155754 )