Npr2<cn> Spontaneous Allele Detail MGI Mouse (MGI:1856702)

Npr2^cn
Spontaneous Allele Detail

Summary

Symbol:	Npr2^cn
Name:	natriuretic peptide receptor 2; achondroplasia
MGI ID:	MGI:1856702
Synonyms:	cn
Gene:	Npr2 Location: Chr4:43631935-43651244 bp, + strand Genetic Position: Chr4, 23.05 cM
Alliance:	Npr2^cn page

Npr2^cn/Npr2^cn mice exhibit small body size.

Show the 2 phenotype image(s) involving this allele.

Mutation
origin

Strain of Origin:

AKR/J

Mutation
description

Allele Type:		Spontaneous (Null/knockout)
Mutation:		Single point mutation
		Mutation details: The molecular basis of this mutation is a T-to-G transversion resulting in a leucine to arginine change in codon 885 (p.L885R). This is a missence mutation resulting in production of an inactive form of Npr2. (J:98753)
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)

	Allelic Composition	Genetic Background
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hm1	Npr2^cn/Npr2^cn	AKR/J
hm2 Disease Model	Npr2^cn/Npr2^cn	involves: AKR/J
hm3	Npr2^cn/Npr2^cn	Not Specified
ht4	Npr2^cn/Npr2^slw	involves: AKR/J * C57BL/6 * DDY
cx5	Npr2^{tm2.1(cre/ERT2)Fgr}/Npr2^cn Tg(CAG-Bgeo/ALPP)1Lbe/0	involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * AKR/J * C57BL/6J

Phenotypes:

Affected Systems	hm1	hm2	hm3	ht4	cx5
show or hide all annotated terms
cardiovascular system	√
abnormal blood circulation	√
craniofacial	√		√
abnormal craniofacial morphology	√
abnormal basicranium morphology			√
decreased cranium length	√
decreased cranium width	√
malocclusion	√
abnormal mandibular condyloid process morphology			√
short maxilla	√
domed cranium	√
abnormal nose morphology	√
growth/size/body	√		√	√
malocclusion	√
abnormal mandibular condyloid process morphology			√
short maxilla	√
abnormal nose morphology	√
abnormal postnatal growth/weight/body size	√
abnormal body weight	√
decreased body size			√
decreased body weight	√
disproportionate dwarf				√
postnatal growth retardation	√
distended abdomen	√
hematopoietic system	√
small spleen	√
homeostasis/metabolism	√
cyanosis	√
immune system	√
small spleen	√
limbs/digits/tail	√
brachydactyly	√
short humerus	√
short radius	√
short ulna	√
short femur	√
short tibia	√
short limbs	√
short tail	√
thick tail	√
mortality/aging	√
premature death	√
postnatal lethality, incomplete penetrance	√
nervous system		√			√
nervous system phenotype					N
abnormal sensory neuron innervation pattern		√
abnormal cranial nerve morphology					√
abnormal dorsal root ganglion morphology					√
abnormal spinal cord dorsal column morphology		√
reproductive system	√
reduced fertility	√
respiratory system	√
abnormal nose morphology	√
skeleton	√	√	√
decreased length of long bones	√
short humerus	√
short radius	√
short ulna	√
short femur	√
short tibia	√
short scapula	√
abnormal pelvic girdle bone morphology	√
abnormal axial skeleton morphology	√
abnormal basicranium morphology			√
decreased cranium length	√
decreased cranium width	√
malocclusion	√
abnormal mandibular condyloid process morphology			√
short maxilla	√
domed cranium	√
short vertebral column	√
abnormal bone trabecula morphology	√
abnormal chondrocyte morphology			√
abnormal skeleton development		√
abnormal long bone epiphyseal plate morphology	√		√
abnormal long bone epiphyseal plate proliferative zone	√
decreased width of hypertrophic chondrocyte zone	√
decreased long bone epiphyseal plate size	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm2
achondroplasia IDs achondroplasia DOID:4480 ICD10CM:Q77.4 MESH:D000130 NCI:C34345 OMIM:100800 UMLS_CUI:C0001080 Close	√

Expression

In Mice Carrying this Mutation:	12 assay results
In Structures Affected by this Mutation:	24 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 Npr2 Mutation:	63 strains or lines available

References

Original:	J:26341 Dickie MM, New mutant - achondroplasia - cn. Mouse News Lett. 1960;23:34
All:	25 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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