Phenotypes associated with this allele

• Allele Symbol: Pfas^Sofa
• Allele Name: short face
• Allele ID: MGI:3717451
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pfas^Sofa/Pfas^+	B6(AKR)-Pfas^Sofa/GrsrJ	MGI:3759250

Genotype
MGI:3759250

ht1

• Allelic Composition: Pfas^Sofa/Pfas⁺
• Genetic Background: B6(AKR)-Pfas^Sofa/GrsrJ

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

Domed cranium, short snout, and ocular hypertelorism in Pfas^Sofa/Pfas⁺ (left) mice compared to control (right)

limbs/digits/tail

non-pigmented tail tip ( J:223062 )

• due to incomplete penetrance some, but not all, heterozygotes have a white tail tip

adipose tissue

decreased total body fat amount ( J:223062 )

craniofacial

abnormal cranium morphology ( J:223062 )

• the short face allelic series of mutants have shortened cranial length and domed skull with midfacial deficiency

premature cranial synchondrosis closure ( J:223062 )

• severely affected heterozygotes have premature ossification of one or more cranial base synchondroses

decreased cranium length ( J:223062 )

abnormal interfrontal bone morphology ( J:223062 )

• the interfrontal bone is diamond-shaped and prematurely fuses with the nasal bones

alveolar process atrophy ( J:223062 )

• some heterozgyotes have significantly receded alveolar bone

domed cranium ( J:223062 )

short snout ( J:125614 )

• a short, upturned nose

upturned snout ( J:223062 )

integument

belly spot ( J:223062 )

• due to incomplete penetrance of this phenotype some but not all heterozygotes have a white belly spot

non-pigmented tail tip ( J:223062 )

• due to incomplete penetrance some, but not all, heterozygotes have a white tail tip

pigmentation

belly spot ( J:223062 )

• due to incomplete penetrance of this phenotype some but not all heterozygotes have a white belly spot

non-pigmented tail tip ( J:223062 )

• due to incomplete penetrance some, but not all, heterozygotes have a white tail tip

skeleton

abnormal cranium morphology ( J:223062 )

• the short face allelic series of mutants have shortened cranial length and domed skull with midfacial deficiency

premature cranial synchondrosis closure ( J:223062 )

• severely affected heterozygotes have premature ossification of one or more cranial base synchondroses

decreased cranium length ( J:223062 )

abnormal interfrontal bone morphology ( J:223062 )

• the interfrontal bone is diamond-shaped and prematurely fuses with the nasal bones

alveolar process atrophy ( J:223062 )

• some heterozgyotes have significantly receded alveolar bone

domed cranium ( J:223062 )

decreased bone mineral content ( J:223062 )

• particularly that of the skull

vision/eye

abnormal eye morphology ( J:223062 )

• a range of eye defects are found including mocrophthalmia and anophthalmia

ocular hypertelorism ( J:125614 )

microphthalmia ( J:223062 )

• in some heterozgyotes

anophthalmia ( J:223062 )

• in some heterozygotes

growth/size/body

alveolar process atrophy ( J:223062 )

• some heterozgyotes have significantly receded alveolar bone

short snout ( J:125614 )

• a short, upturned nose

upturned snout ( J:223062 )

decreased lean body mass ( J:223062 )

decreased body weight ( J:223062 )

• heterozygotes are slightly smaller than normal