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Targeted Allele Detail
Symbol: Hapln1tm1Nid
Name: hyaluronan and proteoglycan link protein 1; targeted mutation 1, National Institute of Dental and Craniofacial Research
MGI ID: MGI:1857729
Synonyms: Crtl1-null, Crtl1tm1Nid, LP-deficient
Gene: Hapln1  Location: Chr13:89540528-89611832 bp, + strand  Genetic Position: Chr13, 45.5 cM
Germline Transmission:  Earliest citation of germline transmission: J:52575
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsA neomycin selection cassette was inserted into a BsgI site in exon 5 (reported as exon 4 in J:85802), causing premature truncation of the gene product. Western blot analysis on samples derived from homozygous mutant mice confirmed that no detectable encoded protein is produced from this allele. (J:52575)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 9 assay results
In Structures Affected by this Mutation: 13 anatomical structures
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 Hapln1 Mutation:  4 strains or lines available
Heterozygous mutant mice appear normal and are fertile. Homozygous mutant mice are runted (dwarfism) with a flat face and domed skull due to defects in cartilage development and delayed bone formation. The mutation appears to affect cranial bones derived from cartilage templates but not those from membranous ossification (J:52575). Collectively, the phenotypes are reminiscent of spondyloepiphyseal dysplasias.
Original:  J:52575 Watanabe H, et al., Mice lacking link protein develop dwarfism and craniofacial abnormalities [see comments]. Nat Genet. 1999 Feb;21(2):225-9
All:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory