Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Lmbr1tm1Kng
Name:	limb region 1; targeted mutation 1, David M Kingsley
MGI ID:	MGI:3579991
Synonyms:	Lmbr1ATG
Gene:	Lmbr1  Location: Chr5:29434800-29583414 bp, - strand  Genetic Position: Chr5, Syntenic
Alliance:	Lmbr1tm1Kng page

Germline Transmission:	Earliest citation of germline transmission: J:72166
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A 1.1 kb sequence containing 365 bp upstream of the predicted translational start site of exon 1 and 696 bp downstream of the exon 1 splice donor site was replaced with a PGKneo selection cassette. The deleted sequence was common to both known transcripts. Northern blot of mutant brains suggested that the allele may not have been a null as overexposure to probes demonstrated transcripts at ~7% of wild-type levels. (J:72166)

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

In Structures Affected by this Mutation:

3 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Lmbr1 Mutation:	33 strains or lines available

Original:	J:72166 Clark RM, et al., Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting lmbr1. Genetics. 2001 Oct;159(2):715-26
All:	1 reference(s)