Phenotypes associated with this allele

• Allele Symbol: Fbln5^tm1Krc
• Allele Name: targeted mutation 1, Kenneth R Chien
• Allele ID: MGI:2681527
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fbln5^tm1Krc/Fbln5^tm1Krc	involves: 129X1/SvJ * C57BL/6	MGI:2681537

Genotype
MGI:2681537

hm1

• Allelic Composition: Fbln5^tm1Krc/Fbln5^tm1Krc
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

cardiovascular system

abnormal aorta morphology ( J:86753 )

• elongation and tortuosity of aorta

• loss of compliance

dilated heart right ventricle ( J:86753 )

• variable severity

• right-sided heart failure, putatively due to severe emphysema and related pulmonary hypertension

abnormal pulmonary circulation ( J:86753 )

craniofacial

abnormal craniofacial morphology ( J:86753 )

short snout ( J:86753 )

respiratory system

abnormal pulmonary circulation ( J:86753 )

abnormal lung morphology ( J:86753 )

• enlargement of distal airspaces observed 3 days after birth

abnormal pulmonary alveolus morphology ( J:86753 )

• disruption of alveolar structure

emphysema ( J:86753 )

abnormal terminal bronchiole morphology ( J:86753 )

• enlargement of distal airspaces observed 3 days after birth

integument

loose skin ( J:86753 )

• skin hanging in folds

growth/size/body

short snout ( J:86753 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cutis laxa		DOID:3144	OMIM:PS123700	J:86753