Table 2.

Mouse models of fibrillin-1 syndromes.

Model name	Variant type	Strain	Phenotype	Inheritance	Syndrome	References
mgΔ	in frame del 6 kb ins PGKneo	C57BL/6J	Aortic dilatation, pre weaning lethal	recessive	MFS	Pereira et al. (1997)
mgR	ins PGKneo	C56BL/6	Vascular abnormalities, kyphosis, bone overgrowth	recessive	MFS	Pereira et al. (1999)
mgN	del 700 bp ins PGKneo	C57BL/6J	Aortic aneurysm, impaired respiratory function, pre weaning lethal	recessive	MFS	Carta et al. (2006)
mgΔloxPneo	in frame del exons 19–24 ins PGKneo ins 2 × loxP	C57BL/6	Vascular abnormalities and skeletal phenotype by 9 months, severe pulmonary alterations by 6 months, ocular abnormalities including ectopia lentis, homozygote lethal pre E13	dominant	MFS	Lima et al. (2010), de Souza et al. (2019), and Souza et al. (2021)
		129/Sv	Vascular abnormalities, severe pulmonary alterations, skeletal phenotype by 3 months, interindividual variability, homozygote lethal pre E13	dominant	MFS
		Mixed 129/Sv and CD-1	Sporadic spinal deformities	dominant
GT-8	truncation after exon 32 ins GFP	C57BL/6	Abnormal microfibril morphology, homozygote postnatal lethal P9-P18	dominant	MFS	Charbonneau et al. (2010a)
C1041Ga	missense	C57BL/6J	Deterioration of aortic structure with age, skeletal anomalies, widening of airspaces, homozygote postnatal lethal P7-P10 from aortic dissection	dominant	MFS	Judge et al. (2004)
D1545E	missense	Mixed C57BL/6J and 129/SvEv	Pathological skin fibrosis, homozygote lethal pre E10.5	dominant	SSS	Gerber et al. (2013)
W1572C	missense	Mixed C57BL/6J and 129/SvEv	Pathological skin fibrosis, homozygote viable with accelerated skin fibrosis	dominant	SSS	Gerber et al. (2013)
Tsk	in frame dup 30–40 kb	B10.D2(58N)/Sn	Thick skin, visceral fibrosis, increased skeletal size, homozygote lethal pre E8	dominant	SSS	Siracusa et al. (1996)
WMΔ	del exon 10–12	C57BL/6	Thick skin, brachydactyly, early reduced long bone growth, homozygote has normal viability	dominant	WMS2	Sengle et al. (2012)
H1Δ	del exon 7, first hybrid domain	C57BL/6	Grossly normal, normal life span	no abnormal phenotype		Charbonneau et al. (2010a)
NPS	del 10 bp of exon/intron 65 border	C57BL/6	Extreme leanness, reduced appetite	dominant	Marfan-progeroid-lipodystrophy syndrome	Duerrschmid et al. (2017)
Tg(WT)	YAC including the whole wild type human FBN1	C57BL/6J	Production of human fibrillin-1 at normal level in addition to mouse fibrillin-1	no abnormal phenotype	NA	Judge et al. (2004)
Tg(mut3)	YAC including human FBN1 carrying p.C1663R	C57BL/6J	Production of mutant human fibrillin-1 at 2 × normal level in addition to mouse fibrillin-1	no abnormal phenotype	NA	Judge et al. (2004)

List derived from the Mouse Genome Informatics (MGI) database (http://www.informatics.jax.org/allele/summary? markerId=MGI:95489) and relevant publications. As with the human condition, the dominant phenotype (expressed in heterozygotes) is less severe than the phenotype of homozygous or biallelic genotypes. See also Charbonneau et al. (2010a) and Hubmacher and Reinhardt (2011) for earlier summaries of available mouse variants. A number of conditional mutations in the Fbn1 locus have also been created (for example, Cook et al. 2012); these are not listed here as they do not replicate the human situation where the variant is present in all cells and tissues.

del, deletion; ins, insertion; dup, duplication; MFS, Marfan syndrome; SSS, stiff-skin syndrome; WMS, Weill-Marchesani syndrome; E8, embryonic day 8; E13, embryonic day 13; P7, postnatal day 7; P10, postnatal day 10; bp, base pairs; kb, kilobases.

^a The MGI database lists C1037G and C1039G as synonyms for C1041G (https://www.informatics.jax.org/allele/MGI:3690325).