Spontaneous craniofacial mutation strains

As we discover new craniofacial mouse mutations, we characterize them to provide the scientific community with models for facial, dental, eye, ear and skull development research, as well as mouse models of human craniofacial syndromes. New deviants, which arise spontaneously among the millions of inbred mice produced annually at The Jackson Laboratory, are taken for study by members of our group. Deviants are tested for heritability, and the strain is characterized. A linkage cross is made to determine the mutant gene's chromosomal location, concurrent with exome sequencing to identify candidate mutations. Mutations that fall within the mapping interval are then validated via Sanger sequencing.

Available models

For more detail, please click on the mutation symbol or gene name.

Mutants are maintained either as live colonies or cryopreserved germplasm. When an investigator expresses interest in a particular live strain, 2 breeder pairs will be provided as soon as possible for the price of shipping. Cryopreserved strains are available for a fee from the JAX Cryopreservation Service.

Mice can be ordered through JAX’s Customer Service group. Questions about specific strains or the program may be addressed to faces@jax.org.

Mapped Models

Stock number	Mutation Symbol	Mutation Name	Gene Symbol	Phenotype	Chr.
005598	Arsb^M1J	mutation 1 Jackson	Arsb	craniofacial, skeletal, neurological, hearing	13
005348	cfe-se6J	cauliflower ear-short ear 6J	Bmp5	Short ear pinnae	9
005420	cfe-se7J	cauliflower ear-short ear 7J	Bmp5	Short nose, short ear pinnae	9
005421	cfe-se8J	cauliflower ear-short ear 8J	Bmp5	Short ear pinnae	9
012724	Col2a1^M2J	mutation 2 Jackson	Col2a1	short nose, cleft palate	15
016585	Col2a1^M3J	mutation 3 Jackson	Col2a1	short nose	15
001934	dhe	disheveled hair and ears	Lmna	small ears, sparse coat; model of human laminopathies	3
002018	din	dense incisors	din	Incisors do not fully erupt	16
005412	Eask	ear askew	Fgfr1	misplaced and malformed pinna	8
003485	frg	froggy	frg	craniofacial, skeletal, size, deafness, eye, movement anomalies, homozygous lethality	13
007947	He	helicopter ears	He	ear pinnae angled outward	4
003950	Hyp-2J	hypophosphatemia 2 Jackson	Phex	small cranium, abnormal postnatal growth	X
005068	Hyp-Duk	hypophosphatemia, Duke	Phex	craniofacial, abnormal postnatal growth	X
006428	hyrh	hydrocephalaus with rhinitis	Hydin	craniofacial	8
008568	lear	little ears	Prkra	Smaller ear pinnae and smaller overall body size	2
010968	mdig	missing digits 2 Jackson	Lrp4	skeleton, digits	2
006857	ne	no eyelid	Frem2	eyes, skeleton, and coat color	3
006446	nee	nose eyes ear	Sh3pxd2b	abnormal postnatal growth; decreased size; short snout and domed cranium	11
007710	sabe	small and bugged-eyed	Mmp14	small body, rounded skulls, large eyes, and shortened lifespan	14
004246	sbse	small body and short ears	sbse	small body and short ears	4
003916	sedc	spondyloepiphyseal dysplasia congenita	Col2a1	abnormal postnatal growth; impaired hearing; disorganized retinal layers; head bobbing	15
005717	shk	sharkey	Sostdc1	teeth, hearing	12
008753	shin	short snout	shsn	short snout, lens spots	4
004476	snol	snubnose-like	snol	Short nose, odd face and body shape, and kinked tail	4
004235 011079	Sofa-2J	short face	Pfas	Short nose, domed head, wide set eyes	11
004507	stn	stunted	stn	short face	19
005624	whe	white eyes	whe	Domed skull and small, white vascular area on the cornea which is also attached to the iris in one or both eyes	11