Lum^tm1Chak
Targeted Allele Detail

Summary

• Symbol: Lum^tm1Chak
• Name: lumican; targeted mutation 1, Shukti Chakravarti
• MGI ID: MGI:2153008
• Synonyms: Lum-, lum^tm1Sc
• Gene: Lum Location: Chr10:97401363-97408565 bp, + strand Genetic Position: Chr10, 50.32 cM
• Alliance: Lum^tm1Chak page

Fmod^tm1Aol/Fmod^tm1Aol Lum^tm1Chak/Lum^tm1Chak mice display decreased body size, abnormal gait and abnormal limb morphology

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:48068
• Parent Cell Line: CT129 (ES Cell)
• Strain of Origin: 129S/Sv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• A neomycin resistance cassette replaced 3kb of sequence containing exon 2. (J:48068)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Lum^tm1Chak/Lum^tm1Chak	involves: 129S/Sv * CD-1
cx2  Disease Model	Fmod^tm1Aol/Fmod^tm1Aol Lum^tm1Chak/Lum^tm1Chak	involves: 129S1/Sv * 129X1/SvJ * CD-1
cx3	Fmod^tm1Aol/Fmod^tm1Aol Lum^tm1Chak/Lum^+	involves: 129S1/Sv * 129X1/SvJ * CD-1

Phenotypes:

Affected Systems	hm1	cx2	cx3
show or hide all annotated terms
behavior/neurological		√
abnormal gait		√
cardiovascular system	√	√
cardiovascular system phenotype	N
abnormal blood vessel morphology		√
abnormal myocardial fiber morphology		√
decreased heart weight		√
bruising	√	√
cellular	√
abnormal apoptosis	√
decreased fibroblast apoptosis	√
increased fibroblast proliferation	√
digestive/alimentary system	N
digestive/alimentary phenotype	N
growth/size/body	√	√
decreased body size	√	√
decreased body weight	√	√
immune system		√
osteoarthritis		√
integument	√	√
abnormal dermal layer morphology	√
loose skin	√	√
skin lesions	√
decreased skin tensile strength	√	√
limbs/digits/tail		√
abnormal limb morphology		√
abnormal femur morphology		√
abnormal patella morphology		√
muscle	√	√	√
abnormal myocardial fiber morphology		√
abnormal tendon morphology	√	√
decreased tendon stiffness		√	√
muscle weakness		√
skeleton	√	√	√
osteoarthritis		√
abnormal femur morphology		√
abnormal patella morphology		√
abnormal tendon morphology	√	√
decreased tendon stiffness		√	√
abnormal articular cartilage morphology		√
vision/eye	√	√
abnormal cornea morphology	√
abnormal cornea stroma morphology	√
decreased cornea stroma thickness	√
abnormal cornea posterior stroma morphology	√
abnormal cornea stroma development	√
cornea opacity	√	√
abnormal eye size		√
retina detachment		√
abnormal sclera morphology		√
sclera thinning	√	√
high myopia		√
increased corneal light-scattering	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1	cx2
Ehlers-Danlos syndrome classic type 1 IDs Ehlers-Danlos syndrome classic type 1       DOID:14720 MESH:C536194 NCI:C125696 OMIM:130000 UMLS_CUI:C0268335 Close	√	√

Expression

In Mice Carrying this Mutation:	3 assay results
In Structures Affected by this Mutation:	7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Lum Mutation: 22 strains or lines available

Notes

ES cell line = CT 129#25.

References

• Original: J:48068 Chakravarti S, et al., Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican. J Cell Biol. 1998 Jun 1;141(5):1277-86
• All: 24 reference(s)