Human Disease and Mouse Model Detail

Human Disease

Term: Emphysema, Hereditary Pulmonary
OMIM ID: 130700

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Bloc1s6	BLOC1S6
Fbn1	FBN1
Fut8	FUT8
Il4ra	IL4R
Itgb6	ITGB6
Jun	JUN
Kl	KL
Tgfb1	TGFB1
Tlr4	TLR4

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Transgenes and
other mutation types

Tg(HP-MMP1a)34-1Cha		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(SFTPC-rtTA)5Jaw
Tg(tetO-PLAGL2)P3Ysy

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.¹
Bloc1s6^pa/Bloc1s6^pa			B6.Cg-Bloc1s6^pa/J	J:4098
Fbn1^Tsk/Fbn1⁺ Il4ra^tm1Sz/Il4ra^tm1Sz			involves: BALB/cJ * C57BL/6J * C57BL/10 * DBA/2	J:68448
Fbn1^Tsk/Fbn1⁺ Il4ra^tm1Sz/Il4ra⁺			involves: BALB/cJ * C57BL/6J * C57BL/10 * DBA/2	J:68448
Fbn1^Tsk/Fbn1⁺ Tgfb1^tm1N/Tgfb1⁺			involves: 129S/SvEv * C57BL/6J * C57BL/10 * DBA/2	J:68448
Fbn1^Tsk/Fbn1⁺			B6.Cg-Fbn1^Tsk	5
Fut8^tm1Nta/Fut8^tm1Nta			involves: 129S2/SvPas	J:102932
Itgb6^tm1Des/Itgb6^tm1Des			involves: 129T2/SvEms	J:89578
Jun^tm4Wag/Jun^tm4Wag Tg(Sftpc-cre)1Blh/0		4	involves: 129P2/OlaHsd * C57BL/6 * DBA/2	J:179883
Kl^kl/Kl^kl			either: C.Cg-Kl^kl or (involves: C3H/J * C57BL/6J)	J:44109
Tlr4^tm1Aki/Tlr4^tm1Aki			B6.129P2-Tlr4^tm1Aki	J:114985
Models involving transgenes or other mutation types.²
Tg(HP-MMP1a)34-1Cha/0			involves: C57BL/6J * CBA/J	J:164058
Tg(HP-MMP1a)34-1Cha/Tg(HP-MMP1a)34-1Cha			involves: C57BL/6J * CBA/J	J:164058
Tg(SFTPC-rtTA)5Jaw/0 Tg(tetO-PLAGL2)P3Ysy/0			involves: FVB/N	J:152422
No similarity to the expected human disease phenotype was found.³
NOT	Itgb6^tm1Des/Itgb6^tm1Des Mmp12^tm1Sds/Mmp12^tm1Sds		involves: 129/Sv * 129T2/SvEms	J:89578

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.
²Models involving transgenes or other mutation types may also appear in other sections of the table.
³The mouse gene may involve mutations to orthologs of human genes which may be causal in humans, but the phenotype did not resemble the disease.
⁴Conditionally targeted allele(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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