Nipal4^tm1Akih
Targeted Allele Detail

Summary

• Symbol: Nipal4^tm1Akih
• Name: NIPA-like domain containing 4; targeted mutation 1, Akio Kihara
• MGI ID: MGI:6159563
• Synonyms: Nipal4^-
• Gene: Nipal4 Location: Chr11:46038982-46057186 bp, - strand Genetic Position: Chr11, 27.59 cM
• Alliance: Nipal4^tm1Akih page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:261184
• Parent Cell Line: TT2 (ES Cell)
• Strain of Origin: (C57BL/6NCrlj x CBA/JNCrlj)F1

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 5 was replaced with an FRT-flanked neomycin resistance cassette. RT-PCR analysis confirmed absence of mRNA expression in the epidermis of homozygous mutant mice. (J:261184)
• Inheritance: Not Specified

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	Nipal4^tm1Akih/Nipal4^tm1Akih	involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
cellular	√
abnormal keratinocyte differentiation	√
growth/size/body	√
decreased birth weight	√
weight loss	√
homeostasis/metabolism	√
impaired skin barrier function	√
abnormal magnesium ion homeostasis	√
decreased ceramide level	√
increased ceramide level	√
decreased sphingosine level	√
increased sphingosine level	√
integument	√
abnormal keratinocyte differentiation	√
impaired skin barrier function	√
abnormal corneocyte morphology	√
abnormal stratum corneum lipid matrix formation	√
hyperkeratosis	√
abnormal epidermis stratum granulosum morphology	√
abnormal epidermal lamellar body morphology	√
abnormal keratohyalin granule morphology	√
decreased keratohyalin granule size	√
increased keratohyalin granule number	√
thick epidermis stratum spinosum	√
abnormal skin appearance	√
shiny skin	√
mortality/aging	√
neonatal lethality, complete penetrance	√

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

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Nipal4 Mutation: 26 strains or lines available

References

• Original: J:261184 Honda Y, et al., Decreased Skin Barrier Lipid Acylceramide and Differentiation-Dependent Gene Expression in Ichthyosis Gene Nipal4-Knockout Mice. J Invest Dermatol. 2018 Apr;138(4):741-749
• All: 1 reference(s)