Phenotypes associated with this allele

• Allele Symbol: Glra1^tm1Betz
• Allele Name: targeted mutation 1, Heinrich Betz
• Allele ID: MGI:3696673
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Glra1^tm1Betz/Glra1^tm1Betz	B6.129P2-Glra1^tm1Betz	MGI:3698026

Genotype
MGI:3698026

hm1

• Allelic Composition: Glra1^tm1Betz/Glra1^tm1Betz
• Genetic Background: B6.129P2-Glra1^tm1Betz

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

mortality/aging

mortality/aging ( J:117236 )

N • normal survival

behavior/neurological

impaired righting response ( J:117236 )

• mean righting time is greater than 10 s

increased startle reflex ( J:117236 )

• show pronounced startle response at relatively low intensity levels (70 dB)

limb grasping ( J:117236 )

• hind limb clasping

tremors ( J:117236 )

• starting around P12

abnormal gait ( J:117236 )

• never show overlapping footprints and have a narrower base of the hind limbs

short stride length ( J:117236 )

muscle

muscle hypertonia ( J:117236 )

• starting around P12

nervous system

abnormal single cell response ( J:117236 )

• cultured spinal neurons show reduction of zinc-induced potentiation of glycine currents

abnormal inhibitory postsynaptic currents ( J:117236 )

• at P14-P16, mean amplitude and decay time are significantly reduced in hypoglossal motor-neurons

• however, at P8 mean amplitude and decay time are similar to wild-type

vision/eye

increased b-wave amplitude ( J:117236 )

• moderate and prominent increase in b-wave amplitude under dark and light adapted conditions, respectively

abnormal cone electrophysiology ( J:117236 )

• increase in photopic oscillatory potentials

growth/size/body

decreased body weight ( J:117236 )

• marginal decrease (less than 10%) in body weight

reproductive system

reproductive system phenotype ( J:117236 )

N • fertile

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperekplexia 1		DOID:0060696	OMIM:149400	J:117236