Phenotypes associated with this allele

• Allele Symbol: Mmp14^sabe
• Allele Name: small and bugged-eyed
• Allele ID: MGI:3763359
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mmp14^sabe/Mmp14^sabe	B6(129P2)-Mmp14^sabe/GrsrJ	MGI:3763360

Genotype
MGI:3763360

hm1

• Allelic Composition: Mmp14^sabe/Mmp14^sabe
• Genetic Background: B6(129P2)-Mmp14^sabe/GrsrJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Mmp14^sabe/Mmp14^sabe mouse (right) is small and short-nosed

mortality/aging

premature death ( J:127164 )

• average life span ranges from 3 weeks to 3 months, with a few living longer

skeleton

decreased cranium height ( J:127164 )

decreased cranium width ( J:127164 )

short mandible ( J:127164 )

short maxilla ( J:127164 )

domed cranium ( J:127164 )

growth/size/body

round head ( J:127164 )

• homozygotes have a rounded head

small ears ( J:127164 )

decreased body size ( J:127164 )

• evident by 2 weeks of age

• growth does not continue after 3 weeks of age, and those that survive appear to slowly waste

craniofacial

decreased cranium height ( J:127164 )

decreased cranium width ( J:127164 )

short mandible ( J:127164 )

short maxilla ( J:127164 )

domed cranium ( J:127164 )

round head ( J:127164 )

• homozygotes have a rounded head

small ears ( J:127164 )

vision/eye

vision/eye phenotype ( J:127164 )

N • intraocular pressure is normal

enlarged optic nerve ( J:127164 )

exophthalmos ( J:127164 )

• homozygotes have large eyes and a rounded head, which gives them a unique 'bugged-eyed' appearance

behavior/neurological

abnormal gait ( J:127164 )

• gait becomes stiff with age

hearing/vestibular/ear

small ears ( J:127164 )

increased or absent threshold for auditory brainstem response ( J:127164 )

• severe hearing loss detected by ABR analysis at 1 month of age

nervous system

enlarged optic nerve ( J:127164 )

adipose tissue

increased percent body fat/body weight ( J:127164 )

• despite a significantly smaller body size, homozygotes have an increased percent body fat (18%) relative to controls (14%)