Hapln1^tm1Nid
Targeted Allele Detail

Summary

• Symbol: Hapln1^tm1Nid
• Name: hyaluronan and proteoglycan link protein 1; targeted mutation 1, National Institute of Dental and Craniofacial Research
• MGI ID: MGI:1857729
• Synonyms: Crtl1-null, Crtl1^tm1Nid, LP-deficient
• Gene: Hapln1 Location: Chr13:89688654-89759951 bp, + strand Genetic Position: Chr13, 45.5 cM
• Alliance: Hapln1^tm1Nid page

Mutation origin

• 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⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A 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)

Disease models

Expression

In Mice Carrying this Mutation:	9 assay results
In Structures Affected by this Mutation:	13 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 Hapln1 Mutation: 28 strains or lines available

Notes

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.

References

• 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: 8 reference(s)