Klc1^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Klc1^m1Btlr
• Name: kinesin light chain 1; mutation 1, Bruce Beutler
• MGI ID: MGI:6113672
• Synonyms: dwarf
• Gene: Klc1 Location: Chr12:111725283-111774278 bp, + strand Genetic Position: Chr12, 61.13 cM
• Alliance: Klc1^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: ENU-induced T to C transition at base pair 111,795,603 (v38) on chromosome 12, or base pair 36,755 in the GenBank genomic region NC_000078. The mutation corresponds to residue 1,901 in the mRNA sequence NM_001025360 within exon 14 of 16 total exons. The mutation results in an isoleucine (I) to threonine (T) substitution at position 569 (I569T) in the variants d and e and I561T in variant c. (J:254928)
• Inheritance: Recessive

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	Klc1^m1Btlr/Klc1^m1Btlr	C57BL/6J-Klc1^m1Btlr

Phenotypes:

Affected Systems	hm1
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growth/size/body	√
decreased body weight	√

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Klc1 Mutation: 54 strains or lines available

References

• Original: J:254928 Turer E, et al., Mutagenetix entry for dwarf. MGI Direct Data Submission. 2018
• All: 1 reference(s)