Hc<0> Spontaneous Allele Detail MGI Mouse (MGI:3027637)

Hc⁰
Spontaneous Allele Detail

Summary

Symbol:	Hc⁰
Name:	hemolytic complement; deficient
MGI ID:	MGI:3027637
Synonyms:	C5-, C5-d, C5-def, C5-deficient, Hc^Hfib2, hc^o
Gene:	Hc Location: Chr2:34873343-34951450 bp, - strand Genetic Position: Chr2, 23.22 cM, cytoband cen-C1
Alliance:	Hc⁰ page

Mutation
origin

Strain of Origin:

multiple strains

Mutation
description

Allele Type:		Spontaneous
Mutation:		Intragenic deletion
		Mutation details: A 2 base "TA" deletion at positions 62 and 63 of an 83 base pair exon near the 5' end of the gene is found in the following mouse strains: A/HeJ, A/J, AKR/J, DBA/2J, I/LnJ, KK/HlJ, MOLF/EiJ, NZB/B1NJ, RF/J, ST/bJ SWR/J, B10.D2/oSnJ. The consequence of this deletion is the creation of a stop codon starting four bases after the deletion. A truncated product of 216 amino acids is predicted as a result although contradictory reports exist that a larger pro-C5 protein may be synthesized. Nevertheless, macrophages from mouse strains carrying this allele do not secrete complement 5. (J:5016, J:23983, J:262923, J:298192)

Phenotypes

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

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 28 strains available Cell Lines: 0 lines available
Carrying any Hc Mutation:	127 strains or lines available

Notes

This is an allele characteristic of various inbred mouse strains including the following: A/HeJ, A/J, AKR/J, DBA/2J, NZB/B1NJ, SWR/J, B10.D2/oSnJ

Hc was identified as a candidate gene for Abhr2 in a microarray analysis of lung mRNA from A/J, C3H/HeJ, and (A/J x C3H/HeJ)F1 x A/J backcross animals. Hc genotype shows statistically significant correlation to allergen-induced bronchial hyperresponsive phenotype. The A/J allele contains a 2 bp deletion resulting in deficient Hc mRNA and protein production and is associated with susceptibility to allergen-induced bronchial hyperresponsiveness. (J:108211)

References

Original:	J:5016 Nilsson UR, et al., Deficiency of the fifth component of complement in mice with an inherited complement defect. J Exp Med. 1967 Jan 1;125(1):1-16
All:	127 reference(s)

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