Pcsk5^tm2Prat
Targeted Allele Detail

Summary

• Symbol: Pcsk5^tm2Prat
• Name: proprotein convertase subtilisin/kexin type 5; targeted mutation 2, Annik Prat
• MGI ID: MGI:3789183
• Synonyms: Pcsk5^flox
• Gene: Pcsk5 Location: Chr19:17409683-17814996 bp, - strand Genetic Position: Chr19, 12.86 cM
• Alliance: Pcsk5^tm2Prat page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:134264
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: An frt-flanked neo cassette with a 5' loxP site was inserted downstream of exon 1 and an additional loxP site was inserted upstream of exon 1. Germ-line, flp-mediated recombination was used to removed the neo cassette leaving exon 1 floxed. (J:134264)

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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cn1	Meox2^tm1(cre)Sor/Meox2^+ Pcsk5^tm2Prat/Pcsk5^tm2.1Prat	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ
cn2	Meox2^tm1(cre)Sor/0 Pcsk5^tm2Prat/Pcsk5^tm2.1Prat	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL

Phenotypes:

Affected Systems	cn1	cn2
show or hide all annotated terms
cardiovascular system	√	√
right aortic arch	√
vascular ring	√
abnormal heart morphology	√
double outlet right ventricle	√
transposition of great arteries	√
atrial septal defect	√
dextrocardia	√
ventricular septal defect	√
hemorrhage		√
craniofacial	√
abnormal palate morphology	√
digestive/alimentary system	√	√
abnormal palate morphology	√
tracheoesophageal fistula	√
herniated intestine		√
growth/size/body	√	√
abnormal palate morphology	√
omphalocele	√
decreased body size		√
limbs/digits/tail	√	√
short hindlimb	√
short tail	√	√
absent tail	√	√
mortality/aging		√
neonatal lethality, complete penetrance		√
nervous system	√
abnormal spinal cord morphology	√
renal/urinary system	√	√
absent kidney	√	√
respiratory system	√	√
tracheoesophageal fistula	√
pulmonary hypoplasia	√
atelectasis		√
respiratory failure		√
skeleton	√	√
abnormal skeleton morphology	√
abnormal sternocostal joint morphology		√
asymmetric sternocostal joints		√
increased rib number		√
abnormal vertebral column morphology	√
vertebral transformation		√
delayed bone ossification		√

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

Expression

In Structures Affected by this Mutation:

17 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Pcsk5^tm2Prat

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 Pcsk5 Mutation: 96 strains or lines available

References

• Original: J:134264 Essalmani R, et al., In vivo functions of the proprotein convertase PC5/6 during mouse development: Gdf11 is a likely substrate. Proc Natl Acad Sci U S A. 2008 Apr 15;105(15):5750-5
• All: 9 reference(s)