Col2a1^Lpk
Chemically induced Allele Detail

Summary

• Symbol: Col2a1^Lpk
• Name: collagen, type II, alpha 1; longpockets
• MGI ID: MGI:3847803
• Gene: Col2a1 Location: Chr15:97873483-97902525 bp, - strand Genetic Position: Chr15, 53.97 cM
• Alliance: Col2a1^Lpk page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Harwell ENU Mutagenesis

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Nucleotide substitutions
• Mutation details: This mutation was discovered by its visible phenotype among F1 progeny of an ENU mutagenized C57BL/6J male mouse. The mutation was mapped to chromosome 15 and shown to be a mutation in the Col2a1 gene causing a Serine to proline change in the amino acid encoded by codon 1386. (J:187141)
• Inheritance: Dominant

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	Col2a1^Lpk/Col2a1^Lpk	involves: C3H/HeH * C57BL/6J
ht2  Disease Model	Col2a1^Lpk/Col2a1^+	C.B6(C3)-Col2a1^Lpk
ht3	Col2a1^Lpk/Col2a1^+	either: C3H.Cg-Col2a1^Lpk/H or (involves: C3H/HeH * C57BL/6J)
ht4  Disease Model	Col2a1^Lpk/Col2a1^+	involves: C3H/HeH * C57BL/6J

Phenotypes:

Affected Systems	hm1	ht2	ht3	ht4
show or hide all annotated terms
craniofacial	√			√
cleft palate	√
short snout				√
digestive/alimentary system	√
cleft palate	√
growth/size/body	√			√
cleft palate	√
short snout				√
decreased body weight				√
decreased fetal size	√
limbs/digits/tail			√	√
abnormal elbow joint morphology				√
abnormal limb long bone morphology				√
short humerus				√
abnormal ulna morphology				√
short ulna				√
short femur				√
short tibia				√
short limbs			√
mortality/aging	√
perinatal lethality, complete penetrance	√
skeleton	√	√		√
abnormal skeleton morphology		√
abnormal elbow joint morphology				√
abnormal limb long bone morphology				√
abnormal ulna morphology				√
short ulna				√
abnormal long bone metaphysis morphology				√
decreased length of long bones	√
short humerus				√
short femur				√
short tibia				√
increased diameter of long bones	√
short lumbar vertebrae				√
abnormal bone structure				√
decreased bone mineral density				√
decreased bone volume				√
increased compact bone thickness				√
abnormal trabecular bone morphology				√
decreased trabecular bone volume				√
decreased bone trabecula number				√
abnormal cartilage morphology	√			√
abnormal chondrocyte morphology	√			√
abnormal skeleton development				√
abnormal long bone epiphysis morphology				√
abnormal cartilage development	√			√
abnormal epiphyseal plate morphology				√
abnormal long bone epiphyseal ossification zone morphology				√
abnormal long bone epiphyseal plate proliferative zone	√
decreased width of hypertrophic chondrocyte zone				√
disorganized long bone epiphyseal plate	√			√
abnormal skeleton physiology				√
abnormal bone ossification				√
delayed endochondral bone ossification				√
abnormal joint mobility				√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ht2	ht4
spondyloepiphyseal dysplasia congenita IDs spondyloepiphyseal dysplasia congenita       DOID:14789 DOID:0080025 MESH:C535788 OMIM:183900 Close	√	√

Expression

In Structures Affected by this Mutation:

23 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Col2a1 Mutation: 69 strains or lines available

References

• Original: J:148829 Esapa C, Lpk, longpockets, is an ENU induced mutation and results in a short-limbed phenotype: Record for "Lpk". MGI Direct Data Submission. 2009
• All: 2 reference(s)