Krt18^tm1Tmm
Targeted Allele Detail

Summary

• Symbol: Krt18^tm1Tmm
• Name: keratin 18; targeted mutation 1, Thomas M Magin
• MGI ID: MGI:2178045
• Synonyms: K18^-, K18 null
• Gene: Krt18 Location: Chr15:101936651-101940461 bp, + strand Genetic Position: Chr15, 57.22 cM, cytoband F3
• Alliance: Krt18^tm1Tmm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:46610
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• An HPRT minigene replaced most of exon 1, intron 1 and exon 2. (J:46610)

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  Disease Model	Krt18^tm1Tmm/Krt18^tm1Tmm	involves: 129P2/OlaHsd
hm2	Krt18^tm1Tmm/Krt18^tm1Tmm	involves: 129/Sv * 129P2/OlaHsd * MF1
ht3	Krt18^tm1Tmm/Krt18^+	involves: 129P2/OlaHsd
cx4	Krt18^tm1Tmm/Krt18^tm1Tmm Krt19^tm2Mmt/Krt19^tm2Mmt	involves: 129/Sv * 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * FVB/N

Phenotypes:

Affected Systems	hm1		hm2	ht3	cx4
show or hide all annotated terms Sex:
cardiovascular system	√	√
liver hemorrhage	√	√
cellular	√	√		√
increased hepatocyte apoptosis		√
chromosomal instability	√	√		√
embryo					√
decreased embryo size					√
abnormal extraembryonic tissue morphology					√
abnormal trophoblast giant cell morphology					√
small placenta					√
growth/size/body			√		√
decreased embryo size					√
enlarged liver			√
immune system	√	√		√
liver inflammation	√	√		√
liver/biliary system	√	√	√	√
liver hemorrhage	√	√
increased hepatocyte apoptosis		√
liver inflammation	√	√		√
abnormal liver morphology	√	√		√
enlarged liver			√
abnormal liver parenchyma morphology	√	√
abnormal hepatocyte morphology	√	√		√
Mallory bodies	√	√		√
focal hepatic necrosis	√	√
hepatic steatosis	√	√		√
increased liver tumor incidence	√	√		√
increased hepatocellular carcinoma incidence	√	√
mortality/aging					√
embryonic lethality during organogenesis, complete penetrance					√
neoplasm	√	√		√
increased liver tumor incidence	√	√		√
increased hepatocellular carcinoma incidence	√	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1
hepatocellular carcinoma IDs hepatocellular carcinoma       DOID:684 DOID:5005 EFO:0000182 ICD10CM:C22.0 MESH:D006528 NCI:C3099 OMIM:114550 ORDO:88673 UMLS_CUI:C2239176 Close	√
metabolic dysfunction-associated steatohepatitis IDs metabolic dysfunction-associated steatohepatitis       DOID:0080547 Close	√

Expression

In Structures Affected by this Mutation:

2 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 Krt18 Mutation: 28 strains or lines available

References

• Original: J:46610 Magin TM, et al., Lessons from keratin 18 knockout mice: formation of novel keratin filaments, secondary loss of keratin 7 and accumulation of liver-specific keratin 8-positive aggregates. J Cell Biol. 1998 Mar 23;140(6):1441-51
• All: 15 reference(s)