Phenotypes Associated with This Genotype

Genotype
MGI:3640836

hm2

• Allelic Composition: Gas1^tm1Fan/Gas1^tm1Fan
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

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

mortality/aging

mortality/aging ( J:70736 , J:79482 )

N • Background Sensitivity: homozygous mice are viable to adulthood on a genetic background involving CD-1 (J:70736)

N (J:79482)

vision/eye

decreased eye pigmentation ( J:70736 )

• reduced

nervous system

abnormal cerebellum development ( J:70736 )

abnormal cerebellar foliation ( J:70736 )

• somewhat shallow foliation at 2 days of age

• smaller folia

abnormal cerebellum external granule cell layer morphology ( J:70736 )

• reduced cell proliferation

• increased apoptosis

abnormal cerebellar Purkinje cell layer ( J:70736 )

• basket cells are more densely distributed with a smaller wrapping area

• reduced cell proliferation

abnormal Purkinje cell morphology ( J:70736 )

• cell bodies are smaller and more densely distributed

• abnormalities develop gradually and relatively late

abnormal Purkinje cell dendrite morphology ( J:70736 )

• dendritic trees are less organized and elaborated, particularly near the pia surface

decreased Purkinje cell size ( J:70736 )

thin cerebellar granule layer ( J:70736 )

• area in section only about 47% of controls

abnormal cerebellar molecular layer ( J:70736 )

• radial fiber abnormalities develop early

• reduced in number and morphologically immature

small cerebellum ( J:70736 )

• normal in size at 2 days of age

• growth retardation after 2 days and visibly smaller than controls at 30 days of age when mass is half that of controls

• uvular sulcus absent

behavior/neurological

impaired balance ( J:70736 )

abnormal gait ( J:70736 )

• wobbling and halting gait

• no overt ataxia

limbs/digits/tail

abnormal limb bud morphology ( J:79482 )

• reduced apoptosis in limbs

thin apical ectodermal ridge ( J:79482 )

• apical ectodermal ridge is thinner than normal

abnormal limb mesenchyme morphology ( J:79482 )

• mesenchymal mass of limbs reduced by E11.5

decreased autopod size ( J:79482 )

• smaller fore- and hind-paws at birth

• paws nearly normal in size in adults

brachydactyly ( J:79482 )

• disproportionate reduction of digits I to III

syndactyly ( J:79482 )

• soft tissue fusions between digits II and III

abnormal limb bone morphology ( J:79482 )

abnormal phalanx morphology ( J:79482 )

• second phalange of digit II is sometimes absent

brachyphalangia ( J:79482 )

• calcified regions are normal but chondrogenic regions are reduced

short metacarpal bones ( J:79482 )

• reduced in size

• calcified regions are normal but chondrogenic regions are reduced

short metatarsal bones ( J:79482 )

• reduced in size

• calcified regions are normal but chondrogenic regions are reduced

abnormal digit development ( J:79482 )

• delayed digit formation

skeleton

abnormal limb bone morphology ( J:79482 )

abnormal phalanx morphology ( J:79482 )

• second phalange of digit II is sometimes absent

brachyphalangia ( J:79482 )

• calcified regions are normal but chondrogenic regions are reduced

short metacarpal bones ( J:79482 )

• reduced in size

• calcified regions are normal but chondrogenic regions are reduced

short metatarsal bones ( J:79482 )

• reduced in size

• calcified regions are normal but chondrogenic regions are reduced

pigmentation

decreased eye pigmentation ( J:70736 )

• reduced

embryo

abnormal limb bud morphology ( J:79482 )

• reduced apoptosis in limbs

thin apical ectodermal ridge ( J:79482 )

• apical ectodermal ridge is thinner than normal

abnormal limb mesenchyme morphology ( J:79482 )

• mesenchymal mass of limbs reduced by E11.5