Pnp^M1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Pnp^M1Btlr
• Name: purine-nucleoside phosphorylase; mutation 1, Bruce Beutler
• MGI ID: MGI:6199970
• Synonyms: Porch
• Gene: Pnp Location: Chr14:51181760-51190869 bp, + strand Genetic Position: Chr14, 26.31 cM, cytoband B-C1
• Alliance: Pnp^M1Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced C to T transition at base pair 50,950,923 (v38) on chromosome 14, or base pair 6,621 in the GenBank genomic region NC_000080 encoding Pnp. The mutation corresponds to residue 833 in the mRNA sequence NM_013632 within exon 5 of 6 total exons. The mutation results in substitution of arginine 185 for a premature stop codon (R185*) in the PNP protein. (J:265147)
• 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	Pnp^M1Btlr/Pnp^M1Btlr	C57BL/6J-Pnp^M1Btlr

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
hematopoietic system	√
increased IgM level	√
immune system	√
increased IgM level	√
impaired humoral immune response	√

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 Pnp Mutation: 29 strains or lines available

References

• Original: J:265147 Choi JH, et al., Mutagenetix entry for Porch. MGI Direct Data Submission. 2018
• All: 1 reference(s)